View all contents - Osteogenesis Imperfecta Variant Database

The symbol and name for this gene were previously LEPRE1 and leucine proline-enriched proteoglycan (leprecan) 1. These changes were made in December 2014.

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The variants below are all in the P3H1 database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than P3H1, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the P3H1 full legend here.

127 public entries
entries per page

Path.

Exon

DNA change

dbSNP

Type

Mutation effect

Protein

RNA change

Re-site

DB-ID

Patient ID

Disease

Reference

Template

Technique

Remarks

Ethnic origin


+/+	01	c.9dupA + c.9dupA	-	Duplication	Frameshift	p.(Arg4Thrfs*33)	-	-	P3H1_00037	No. 302	OI II	Caparros-Martin et al., 2016	DNA	PCR, SEQ	The variant is incorrectly described as being in the LEPRE1 gene.	Egyptian
+/+	01	c.26T>C	-	Substitution	Missense	p.Lys9Pro	-	-	P3H1_00041	OI 10	OI IV	Mohd Nawawi et al., 2018	DNA	CGP	P3H1 sequence variants are normally recessive. The single variant in this patient probably does not account alone for the OI phenotype.	Malaysian
+/+	01	c.95_99delinsA + c.1080+1G>T	-	Insertion/Deletion	Frameshift	p.(Met32Lysfs*24)	-	-	LEPRE1_00045	31	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	01	c.105_120del + c.2164C>T	-	Deletion	Frameshift	p.(Asp36Argfs*16)	-	-	P3H1_00035		OI VIII	Huang et al., 2017	DNA	CNGP, PCR, SEQ	-	Chinese
+/+	01	c.138C>A + c.138C>A	-	Substitution	Nonsense	c.(Tyr46*)	-	-	LEPRE1_00055	Individual V15	OI III	Rauch et al., 2014	DNA	mPCR, SEQ	-	-
+/+	01	c.232delC + c.232delC	-	Deletion	Frameshift	p.(Gln78Serfs*30)	-	-	P3H1_00005	Proband 4	OI III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	-	Irish Traveller
+/+	01	c.232delC + c.232delC	-	Deletion	Frameshift	p.(Gln78Serfs*30)	-	-	P3H1_00005	Proband 5	OI II	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	-	Irish Traveller
+/+	01	c.232delC + c.232delC	-	Deletion	Frameshift	p.(Gln78Serfs*30)	-	-	P3H1_00005	Proband 6	OI II/III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	-	Irish Traveller
+/+	01	c.232delC + c.1914+1G>A	-	Deletion	Frameshift	p.(Gln78Serfs*30)	-	-	P3H1_00005	30	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	01	c.392C>A + c.392C>A	-	Substitution	Nonsense	p.(Ser131*)	-	-	P3H1_00006	Proband 7	OI II	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 1 by Pepin et al., 2013.	Native American
+/+	01	c.401_402del + c.401_402del	-	Deletion	Frameshift	p.(Glu134Glyfs*41)	-	-	LEPRE1_00026	VI:1 & VI:3	OI III	van Dijk et al., 2010	DNA	PCR, SEQ	The parents are first cousins.	Turkish
+/+	01	c.428G>C	-	Substitution	Missense	p.(Arg143Pro)	-	-	P3H1_00040		OI VIII	Popkov, 2018	DNA	CNEP	Variant details were supplied by the author. It is not clear if the patient is homozygous for the variant, or is heterozygous and harbours some other variant in addition.	-
+/+	01	c.439_441del + c.439_441del	-	Deletion	In-frame deletion	p.(Asn147del)	-	-	LEPRE1_00037	2	OI	Pepin et al., 2013, United States:Seattle	DNA	SEQ	-	Somali
+/+	02	c.484del + c.2155dupC	-	Deletion	Frameshift	p.(Ala162Leufs*22)	-	-	LEPRE1_00031		OI III	Takagi et al., 2012	DNA	PCR, SEQ	-	-
+/+	02	c.570_571del + c.570_571del	-	Deletion	Frameshift	p.(Gly191Serfs*10)	-	-	LEPRE1_00038	3	OI	Pepin et al., 2013, United States:Seattle	DNA	SEQ	-	Arabic
+/+	02i	c.618+1G>A + c.1080+1G>T	-	Substitution	Splice site	-	-	-	LEPRE1_00046	32	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	03	c.628C>T + c.628C>T	-	Substitution	Nonsense	p.(Arg210*)	-	-	P3H1_00015	Proband 2-1	OI II/III	Willaert et al., 2008	DNA	PCR, SEQ	The sister (Proband 2-2) of this male proband is also homozygous for the same mutation.	Turkish
+/+	03	c.747delC + c.1080+1G>T	-	Deletion	Frameshift	p.(Tyr250Metfs*87)	-	NlaIV -	P3H1_00003	Proband 4	OI II	Cabral et al., 2007	DNA	PCR, SEQ	The patient has also been described as Proband 8 by Chang et al., 2010.	African American (M) & Virgin Islands (P)
+/+	03	c.765C>A + c.1080+1G>T	-	Substitution	Nonsense	p.(Tyr255*)	-	-	P3H1_00009	Proband 15	OI II	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 33 by Pepin et al., 2013 though the Proband number is mis-identified as 5, rather than as 15.	African American
+/+	03	c.765C>A + c.1080+1G>T	-	Substitution	Nonsense	p.(Tyr255*)	-	-	P3H1_00009	34	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	04	c.838C>T + c.1080+1G>T	-	Substitution	Nonsense	p.(Gln280*)	-	-	LEPRE1_00036		OI VIII	Moul et al., 2013	DNA	SEQ	The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by Pepin et al., 2013.	African-Colombian African-American
+/+	04	c.927delT + c.927delT	-	Deletion	Frameshift	p.(Phe309Leufs*28)	-	-	LEPRE1_00035	AN_002111	Bruck syndrome type 3	Caparrós-Martin et al., 2013, Spain:Madrid	DNA	SEQ	Family 2, patient 2. The patient's younger sister (AN_002112) also harbours the same variants.	Spanish
+/+	04	c.933C>G + c.933C>G	-	Substitution	Nonsense	p.(Tyr311*)	-	-	P3H1_00007	Proband 8	OI III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	-	Arabic
?/-	05	c.1045G>A	dbSNP	Substitution	Missense	p.(Gly349Arg)	-	-	P3H1_00025	-	-	dbSNP	Unknown	Unknown	-	-
+?/-?	05	c.1045G>A	dbSNP	Substitution	Missense	p.(Gly349Arg)	-	-	P3H1_00025	AN_002351	OI	China:Jinan	DNA	PCR, SEQ	It is improbable that this is the disease-causing variant as this variant is too frequent in most populations to be associated with OI.	-
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 1	OI II	Cabral et al., 2007	DNA	PCR, SEQ	-	Ghanaian
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 2	OI II/III	Cabral et al., 2007	DNA	PCR, SEQ	The proband's sibling (2-2, terminated at 19 weeks) is described as Proband 7 by Chang et al., 2010.	African American
+/+	05i	c.1080+1G>T + c.1473+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 3	OI III	Cabral et al., 2007	DNA	PCR, SEQ	-	Nigerian
+/+	05i	c.1080+1G>T + c.747delC	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 4	OI II	Cabral et al., 2007	DNA	PCR, SEQ	The patient has also been described as Proband 8 by Chang et al., 2010.	African American (M) & Virgin Islands (P)
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 11	OI II/III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 5 by Pepin et al., 2013.	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 12	OI II/III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 6 by Pepin et al., 2013.	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 13	OI II	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 14	OI II/III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 13 by Pepin et al., 2013.	African American
+/+	05i	c.1080+1G>T + c.765C>A	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 15	OI II	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 33 by Pepin et al., 2013 though the Proband number is mis-identified as 5, rather than as 15.	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	D1	OI II	Bodian et al., 2009, United States:Seattle	DNA	PCR, SEQ	-	African American?
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	D3	OI II	Bodian et al., 2009, United States:Seattle	DNA	PCR, SEQ	-	African American?
+/?	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Family 46	OI II	Pyott et al., 2011, United States:Seattle	DNA	PCR, SEQ	-	-
+/+	05i	c.1080+1G>T + c.838C>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001		OI VIII	Moul et al., 2013	DNA	SEQ	The sequence variants are not presented by the authors in the paper, but were provided by the diagnostic laboratory. This patient was subsequently presented as patient 35 by Pepin et al., 2013.	African-Colombian African-American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	4	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	7	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	8	OI	Pepin et al., 2013	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	9	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	10	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	11	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African Haitian
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	12	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	14	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	15	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.95_99delinsA	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	31	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.618+1G>A	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	32	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.765C>A	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	34	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1170+5G>C	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	36	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1554_1555del	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	37	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	05i	c.1080+1G>T + c.1720+5G>A	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	38	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1881_1882del	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	39	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	Asian Indian
+/+	05i	c.1080+1G>T + c.1996delA	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	40	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.2148_2149delinsA	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	41	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Individual T16	OI VIII	Rauch et al., 2014	DNA	mPCR, SEQ	-	-
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	P1	OI III	Barbirato et al., 2015	DNA	PCR, SEQ, SSCA	The proband is the son of cousin parents whose DNA was not available for testing.	-
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 4	OI VIII	Fratzl-Zelman et al., 2016	DNA	PCR, SEQ	-	African American
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 5	OI VIII	Fratzl-Zelman et al., 2016	DNA	PCR, SEQ	-	Ghanaian
+/+	05i	c.1080+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	Proband 6	OI VIII	Fratzl-Zelman et al., 2016	DNA	PCR, SEQ	The proband died at 3 weeks of age.	Ghanaian
+/+	05i	c.1080+1G>T + c.1948G>C	-	Substitution	Splice site	-	-	BslI +	P3H1_00001	AN_006102	OI VIII	United States:Houston	DNA	CNGP	Diagnosed prenatally via U/S with OI. 5 fractures at age 21 months: bilateral femur fractures at least twice, bilateral ulnae, bilateral humerus, and a questionable skull fracture. Currently, at age 14, is ambulatory and plays sports.	African American
+/+	05i	c.1080+1G>T + c.1646T>G	-	Substitution	Splice site	-	-	BslI +	P3H1_00001		OI VIII	Santana et al., 2018	DNA	SEQ	The phenotype is described as being moderately severe.	-
+/+?	06	c.1087A>G	-	Substitution	Missense	p.(Lys363Glu)	-	-	P3H1_00026	P2	OI III	Barbirato et al., 2015	DNA	PCR, SEQ, SSCA	The parents of the proband are reported not to be consanguineous. Only one P3H1 variant was detected in the proband in spite of all exons of P3H1 being sequenced.	-
+/+	06	c.1102C>T + c.2055+18G>A	-	Substitution	Nonsense	p.(Arg368*)	-	-	P3H1_00016	Proband 3	OI II/III	Willaert et al., 2008	DNA	PCR, SEQ	-	Belgian
+/+	06	c.1120G>T + c.1120G>T	-	Substitution	Nonsense	p.(Glu374*)	-	-	LEPRE1_00039	16	OI	Pepin et al., 2013, United States:Seattle	DNA	SEQ	-	Hispanic
+/+	06	c.1120G>T + c.1300G>T	-	Substitution	Nonsense	p.(Glu374*)	-	-	LEPRE1_00039	42	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	Italian
+/+	06	c.1170G>A + c.1459C>T	-	Substitution	Splice site	-	-	-	LEPRE1_00052	43	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	The variant at cDNA position 1170 in this patient, although predicted to be synonymous, has an effect on mRNA splicing,	-
+/+	06i	c.1170+2T>A + c.1170+2T>A	-	Substitution	Splice site	-	-	-	P3H1_00012	Proband 18	OI III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 17 by Pepin et al., 2013.	First Nation Canadian
+/+	06i	c.1170+5G>C + c.1170+5G>C	-	Substitution	Splice site	-	-	-	P3H1_00013	Proband 19	OI II	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 20 by Pepin et al., 2013.	Vietnamese
+/+	06i	c.1170+5G>C + c.1170+5G>C	-	Substitution	Splice site	-	-	-	P3H1_00013	18	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	Vietnamese
+/+	06i	c.1170+5G>C + c.1170+5G>C	-	Substitution	Splice site	-	-	-	P3H1_00013	19	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	Vietnamese
+/+	06i	c.1170+5G>C + c.1080+1G>T	-	Substitution	Splice site	-	-	-	P3H1_00013	36	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
+/+	07	c.1223+2T>G + c.1223+2T>G	-	Substitution	Splice site	-	-	-	LEPRE1_00034	AN_002110	OI III	Caparrós-Martin et al., 2013, Spain:Madrid	DNA	SEQ	Family 1	Egyptian
+/+	08	c.1244dup + c.1914+1G>A	-	Duplication	Frameshift	p.(Arg416Thrfs*40)	-	-	LEPRE1_00054	44	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	08	c.1300G>T + c.1120G>T	-	Substitution	Nonsense	p.(Glu434*)	-	-	LEPRE1_00051	42	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	Italian
+/+	08	c.1345G>A + c.1345G>A	-	Substitution	Missense	p.(Gly449Ser)	-	-	LEPRE1_00040	21	OI	Pepin et al., 2013, United States:Seattle	DNA	SEQ	-	Lebanese
+/+	08	c.1345G>C + c.1345G>C	-	Substitution	Missense	p.(Gly449Arg)	-	-	LEPRE1_00041	22	OI	Pepin et al., 2013, United States:Seattle	DNA	SEQ	-	Finnish
+/+	09	c.1346-340_1473+36del + c.1346-340_1473+36del	-	Deletion	Frameshift	-	-	-	P3H1_00011	Proband 17	OI II/III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 23 by Pepin et al., 2013.	French Canadian
+/+	09	c.1346-340_1473+36del + c.1346-340_1473+36del	-	Deletion	Frameshift	-	-	-	P3H1_00011	Proband 3	OI VIII	Fratzl-Zelman et al., 2016	DNA	PCR, SEQ	-	Caucasian
+/+	09	c.1365_1366delinsC + c.1365_1366delinsC	-	Insertion/Deletion	Frameshift	p.(Glu455Aspfs*7)	-	-	P3H1_00014	Proband 1	OI II/III	Willaert et al., 2008	DNA	PCR, SEQ	-	Lebanese
+/+	09	c.1383_1389dup + c.1383_1389dup	-	Duplication	Frameshift	p.(Lys464Glufs*19)	-	Hpy188I +	P3H1_00010	Proband 16	OI III	Baldridge et al., 2008, United States:Seattle	DNA	PCR, SEQ	This patient was subsequently presented as patient 24 by Pepin et al., 2013.	Asian Indian
+/+	09	c.1383_1389dup + c.1924_1934del	-	Duplication	Frameshift	p.(Lys464Glufs*19)	-	Hpy188I +	P3H1_00010	Proband 5	OI VIII	Chang et al., 2010	DNA, RNA	PCR, RT-PCR, SEQ	This patient was subsequently described as Proband 2 by Fratzl-Zelman et al., 2016.	Pakistani
+/+	09	c.1459C>T + c.1170G>A	-	Substitution	Nonsense	p.(Gln487*)	-	-	LEPRE1_00053	43	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	The variant at cDNA position 1170 in this patient, although predicted to be synonymous, has an effect on mRNA splicing,	-
+/+	09	c.1466T>C + c.1915-1G>A	-	Substitution	Missense	p.(Leu489Pro)	-	-	LEPRE1_00027	Proband 1	OI III	Zhang et al., 2011	DNA	PCR, SEQ	-	Han Chinese
+/+	09i	c.1473+1G>T + c.1080+1G>T	-	Substitution	Splice site	-	-	MseI +	P3H1_00002	Proband 3	OI III	Cabral et al., 2007	DNA	PCR, SEQ	-	Nigerian
+/+	09i	c.1473+3A>C + c.1675dupC	-	Substitution	Splice site	-	-	-	LEPRE1_00029	Proband 2	OI III	Zhang et al., 2011	DNA	PCR, SEQ	-	Han Chinese
-?/-?	10	c.1501C>T	-	Substitution	Missense	p.(Arg501Trp)	-	-	P3H1_00029		-	Barbirato et al., 2015	DNA	PCR, SEQ, SSCA	This variant has been found in OI patients and in normal controls.	-
?/-	10	c.1517C>G	dbSNP	Substitution	Missense	p.(Pro506Arg)	-	-	P3H1_00024	-	-	dbSNP	Unknown	Unknown	-	-
+/+	10	c.1554_1555del + c.1080+1G>T	-	Deletion	Frameshift	:p.(Phe519Glnfs*63)	-	-	LEPRE1_00047	37	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	-
+/+	11	c.1646T>G + c.1080+1G>T	-	Substitution	Missense	p.(Met549Arg)	-	-	P3H1_00039		OI VIII	Santana et al., 2018	DNA	SEQ	The phenotype is described as being moderately severe.	-
?/-	11	c.1647G>A	dbSNP	Substitution	Missense	p.(Met549Ile)	-	-	P3H1_00023	-	-	dbSNP	Unknown	Unknown	-	-
-?/-?	11	c.1647G>A	-	Substitution	Missense	p.(Met549Ile)	-	-	P3H1_00030		-	Barbirato et al., 2015	DNA	PCR, SEQ, SSCA	This variant has been found in OI patients and in normal controls.	-
+/+	11	c.1656C>A + c.1656C>A	-	Substitution	Nonsense	p.(Tyr552*)	-	Tsp509I +	P3H1_00004	Proband 5	OI III	Cabral et al., 2007	DNA	PCR, SEQ	This patient has also been described as Proband 10 by Baldridge et al., 2008 and the mutation confirmed. The patient has also been described as Proband 6 by Chang et al., 2010, as patient 25 by Pepin et al., 2013 and as Proband 1 by Fratzl-Zelman et al., 2016.	Pakistani
+/+	11	c.1675dupC + c.1473+3A>C	-	Duplication	Frameshift	p.(Leu559Profs*24)	-	-	LEPRE1_00030	Proband 2	OI III	Zhang et al., 2011	DNA	PCR, SEQ	-	Han Chinese
?/-	11	c.1716C>T	dbSNP	Substitution	Silent	p.(=)	-	-	P3H1_00022	-	-	dbSNP	Unknown	Unknown	-	-
+/+	11i	c.1720+5G>A + c.1080+1G>T	-	Substitution	Splice site	-	-	-	LEPRE1_00048	38	OI	Pepin et al., 2013, United States:Seattle	DNA, RNA	PCR, RT-PCR, SEQ	-	African American
-/-	11i	c.1720+52C>T + c.1812C>T	-	Substitution	Other	-	-	-	P3H1_00028	P4	OI I	-	DNA	PCR, SEQ, SSCA	The proband's mother also has OI type I but she does not carru either of the proband's variants.	-
?/-	12	c.1812C>T	dbSNP	Substitution	Silent	p.(Pro604=)	-	-	P3H1_00021	-	-	dbSNP	Unknown	Unknown	-	-
-/-	12	c.1812C>T + c.1720+52C>T	dbSNP	Substitution	Silent	p.(Pro604=)	-	-	P3H1_00021	P4	OI I	-	DNA	PCR, SEQ, SSCA	The proband's mother also has OI type I but she does not carru either of the proband's variants.	-

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Legend: [ P3H1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. P3H1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient

Osteogenesis Imperfecta Variant Database

prolyl 3-hydroxylase 1 (P3H1)