NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) AND HPRT YALE

Germline classification:: other (1 submission)
Last evaluated:: May 12, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000010745.1

Allele description [Variation Report for NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)]

NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)

Gene:

HPRT1:hypoxanthine phosphoribosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.2

Genomic location:

Preferred name:

NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg)

HGVS:

NC_000023.11:g.134475257G>C
NG_012329.2:g.20113G>C
NM_000194.3:c.211G>CMANE SELECT
NP_000185.1:p.Gly71Arg
NC_000023.10:g.133609287G>C
NG_012329.1:g.20113G>C
P00492:p.Gly71Arg

Protein change:

G71R; GLY71ARG

Links:

UniProtKB: P00492#VAR_006774; OMIM: 308000.0017; dbSNP: rs137852488

NCBI 1000 Genomes Browser:

rs137852488

Molecular consequence:

NM_000194.3:c.211G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HPRT YALE
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030971	OMIM	no assertion criteria provided	other (May 12, 2011)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 3944251, 2910902

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030971

OMIM

no assertion criteria provided

other
(May 12, 2011)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

Wilson JM, Stout JT, Palella TD, Davidson BL, Kelley WN, Caskey CT.

J Clin Invest. 1986 Jan;77(1):188-95.

PubMed [citation]

PMID:: 3944251
PMCID:: PMC423326

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.

Fujimori S, Davidson BL, Kelley WN, Palella TD.

J Clin Invest. 1989 Jan;83(1):11-3.

PubMed [citation]

PMID:: 2910902
PMCID:: PMC303636

Details of each submission

From OMIM, SCV000030971.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In the mutant HPRT(Yale), discovered in a subject with LNS (300322), Wilson et al. (1986) found normal mRNA in protein concentrations, no residual catalytic activity, and cathodal migration upon PAGE. By cloning and sequencing HPRT(Yale) cDNA, Fujimori et al. (1989) found a single nucleotide substitution: G-to-C at nucleotide position 211. This transversion predicted substitution of arginine for glycine at amino acid position 71, explaining the cathodal migration of HPRT(Yale). Inclusion of the bulky arginine side chain in place of glycine probably disrupts protein folding.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 1, 2023

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