View unique variants - 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. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
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.

78 entries
entries per page

Exon

DNA change

dbSNP

Type

Mutation effect

Protein

RNA change

Re-site

DB-ID


01	c.9dupA (Reported 2 times)	-	Duplication	Frameshift	p.(Arg4Thrfs*33)	-	-	P3H1_00037
01	c.26T>C (Reported 2 times)	-	Substitution	Missense	p.Leu9Pro	-	-	P3H1_00041
01	c.95_99delinsA	-	Insertion/Deletion	Frameshift	p.(Met32Lysfs*24)	-	-	LEPRE1_00045
01	c.105_120del	-	Deletion	Frameshift	p.(Asp36Argfs*16)	-	-	P3H1_00035
01	c.138C>A (Reported 2 times)	-	Substitution	Nonsense	c.(Tyr46*)	-	-	LEPRE1_00055
01	c.232delC (Reported 7 times)	-	Deletion	Frameshift	p.(Gln78Serfs*30)	-	-	P3H1_00005
01	c.392C>A (Reported 2 times)	-	Substitution	Nonsense	p.(Ser131*)	-	-	P3H1_00006
01	c.401_402del (Reported 2 times)	-	Deletion	Frameshift	p.(Glu134Glyfs*41)	-	-	LEPRE1_00026
01	c.428G>C	-	Substitution	Missense	p.(Arg143Pro)	-	-	P3H1_00040
01	c.439_441del (Reported 2 times)	-	Deletion	In-frame deletion	p.(Asn147del)	-	-	LEPRE1_00037
02	c.484del	-	Deletion	Frameshift	p.(Ala162Leufs*22)	-	-	LEPRE1_00031
02	c.570_571del (Reported 2 times)	-	Deletion	Frameshift	p.(Gly191Serfs*10)	-	-	LEPRE1_00038
02i	c.618+1G>A	-	Substitution	Splice site	-	-	-	LEPRE1_00046
03	c.628C>T (Reported 2 times)	-	Substitution	Nonsense	p.(Arg210*)	-	-	P3H1_00015
03	c.747delC	-	Deletion	Frameshift	p.(Tyr250Metfs*87)	-	NlaIV -	P3H1_00003
03	c.765C>A (Reported 2 times)	-	Substitution	Nonsense	p.(Tyr255*)	-	-	P3H1_00009
04	c.838C>T	-	Substitution	Nonsense	p.(Gln280*)	-	-	LEPRE1_00036
04	c.879_880del (Reported 2 times)	-	Deletion	Frameshift	p.(Lys294Alafs*3)	-	-	P3H1_00051
04	c.927delT (Reported 2 times)	-	Deletion	Frameshift	p.(Phe309Leufs*28)	-	-	LEPRE1_00035
04	c.933C>G (Reported 2 times)	-	Substitution	Nonsense	p.(Tyr311*)	-	-	P3H1_00007
05	c.1026del	-	Deletion	Frameshift	p.(Tyr343Ilefs*56)	-	-	P3H1_00049
05	c.1045G>A (Reported 2 times)	dbSNP	Substitution	Missense	p.(Gly349Arg)	-	-	P3H1_00025
05i	c.1080+1G>T (Reported 63 times)	-	Substitution	Splice site	-	-	BslI +	P3H1_00001
06	c.1087A>G	-	Substitution	Missense	p.(Lys363Glu)	-	-	P3H1_00026
06	c.1102C>T	-	Substitution	Nonsense	p.(Arg368*)	-	-	P3H1_00016
06	c.1120G>T (Reported 3 times)	-	Substitution	Nonsense	p.(Glu374*)	-	-	LEPRE1_00039
06	c.1170G>A	-	Substitution	Splice site	-	-	-	LEPRE1_00052
06	c.1170G>C (Reported 2 times)	-	Substitution	Splice site	-	-	-	P3H1_00046
06i	c.1170+2T>A (Reported 2 times)	-	Substitution	Splice site	-	-	-	P3H1_00012
06i	c.1170+5G>C (Reported 7 times)	-	Substitution	Splice site	-	-	-	P3H1_00013
07	c.1223+2T>G (Reported 2 times)	-	Substitution	Splice site	-	-	-	LEPRE1_00034
08	c.1244dup	-	Duplication	Frameshift	p.(Arg416Thrfs*40)	-	-	LEPRE1_00054
08	c.1300G>T	-	Substitution	Nonsense	p.(Glu434*)	-	-	LEPRE1_00051
08	c.1345G>A (Reported 2 times)	-	Substitution	Missense	p.(Gly449Ser)	-	-	LEPRE1_00040
08	c.1345G>C (Reported 2 times)	-	Substitution	Missense	p.(Gly449Arg)	-	-	LEPRE1_00041
08i	c.1346-1G>C (Reported 4 times)	-	Substitution	Splice site	-	-	-	P3H1_00043
09	c.1346-340_1473+36del (Reported 4 times)	-	Deletion	Frameshift	-	-	-	P3H1_00011
09	c.1365_1366delinsC (Reported 2 times)	-	Insertion/Deletion	Frameshift	p.(Glu455Aspfs*7)	-	-	P3H1_00014
09	c.1383_1389dup (Reported 3 times)	-	Duplication	Frameshift	p.(Lys464Glufs*19)	-	Hpy188I +	P3H1_00010
09	c.1459C>T	-	Substitution	Nonsense	p.(Gln487*)	-	-	LEPRE1_00053
09	c.1466T>C	-	Substitution	Missense	p.(Leu489Pro)	-	-	LEPRE1_00027
09i	c.1473+1G>T	-	Substitution	Splice site	-	-	MseI +	P3H1_00002
09i	c.1473+3A>C	-	Substitution	Splice site	-	-	-	LEPRE1_00029
10	c.1501C>T	-	Substitution	Missense	p.(Arg501Trp)	-	-	P3H1_00029
10	c.1517C>G	dbSNP	Substitution	Missense	p.(Pro506Arg)	-	-	P3H1_00024
10	c.1554_1555del	-	Deletion	Frameshift	:p.(Phe519Glnfs*63)	-	-	LEPRE1_00047
11	c.1636C>T (Reported 4 times)	-	Substitution	Missense	p.(Arg546Trp)	-	-	P3H1_00047
11	c.1646T>G	-	Substitution	Missense	p.(Met549Arg)	-	-	P3H1_00039
11	c.1647G>A (Reported 2 times)	dbSNP	Substitution	Missense	p.(Met549Ile)	-	-	P3H1_00023
11	c.1656C>A (Reported 2 times)	-	Substitution	Nonsense	p.(Tyr552*)	-	Tsp509I +	P3H1_00004
11	c.1675dupC	-	Duplication	Frameshift	p.(Leu559Profs*24)	-	-	LEPRE1_00030
11	c.1716C>T	dbSNP	Substitution	Silent	p.(=)	-	-	P3H1_00022
11i	c.1720+5G>A	-	Substitution	Splice site	-	-	-	LEPRE1_00048
11i	c.1720+52C>T	-	Substitution	Other	-	-	-	P3H1_00028
12	c.1812C>T (Reported 2 times)	dbSNP	Substitution	Silent	p.(Pro604=)	-	-	P3H1_00021
12i	c.1839-30G>A	-	Substitution	Other	-	-	-	P3H1_00031
13i	c.1914+1G>A (Reported 2 times)	-	Substitution	Splice site	-	-	-	P3H1_00053
13	c.1838+2T>C	-	Substitution	Splice site	-	-	-	P3H1_00052
13	c.1881_1882del (Reported 3 times)	-	Deletion	Frameshift	p.(Phe627Leufs*4)	-	-	LEPRE1_00042
13i	c.1914+1G>A (Reported 4 times)	-	Substitution	Splice site	-	-	-	LEPRE1_00044
13i	c.1915-20T>G	-	Substitution	Other	-	-	-	P3H1_00032
13i	c.1915-1G>A	-	Substitution	Splice site	-	-	-	LEPRE1_00028
14	c.1924_1934del	-	Deletion	Frameshift	p.(Gln642Trpfs*11)	-	BslI -	P3H1_00018
14	c.1930C>A	dbSNP	Substitution	Missense	p.(Gln644Lys)	-	-	P3H1_00020
14	c.1948G>C	-	Substitution	Missense	p.Gly650Arg	-	-	P3H1_00038
14	c.1996delA	-	Deletion	Frameshift	p.(Arg666Glyfs*29)	-	-	LEPRE1_00049
14	c.2014dup (Reported 2 times)	-	Duplication	Frameshift	p.(Ile672Asnfs*21)	-	-	LEPRE1_00043
14	c.2024G>T	-	Substitution	Missense	p.(Trp675Leu)	-	-	P3H1_00027
14	c.2041C>T (Reported 6 times)	-	Substitution	Nonsense	p.(Arg681*)	-	-	P3H1_00008
14i	c.2055+17C>T	-	Substitution	Other	-	-	-	P3H1_00033
14i	c.2055+18G>A (Reported 3 times)	-	Substitution	Splice site	-	-	-	P3H1_00017
14i	c.2055+74T>A	-	Substitution	Other	-	-	-	P3H1_00034
14i	c.2056-1G>A (Reported 2 times)	-	Substitution	Splice site	-	-	-	LEPRE1_00033
15	c.2143C>T	-	Substitution	Nonsense	p.(Gln715*)	-	-	P3H1_00044
15	c.2148_2149delinsA	-	Insertion/Deletion	Frameshift	p.(Glu719Asnfs*29)	-	-	LEPRE1_00050
15	c.2155dupC	-	Duplication	Frameshift	p.(Glu719Glyfs*11)	-	-	LEPRE1_00032
15	c.2164C>T	-	Substitution	Nonsense	p.(Gln722*)	-	-	P3H1_00036
15	c.*73C>T	dbSNP	Substitution	UTR variant	-	-	-	P3H1_00019

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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.
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.

Osteogenesis Imperfecta Variant Database

prolyl 3-hydroxylase 1 (P3H1)