View unique variants - Osteogenesis Imperfecta Variant Database

This page is now frozen. No new data will be added. No further corrections will be made.

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

About this overview [Show]

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

1 - 78

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)

This page is now frozen. No new data will be added. No further corrections will be made.