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NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) AND Variegate porphyria, childhood-onset

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1996
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:
RCV003324488.3

Allele description [Variation Report for NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)]

NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)

Gene:
PPOX:protoporphyrinogen oxidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)
HGVS:
  • NC_000001.11:g.161168462C>T
  • NG_012877.2:g.7072C>T
  • NM_000309.5:c.502C>T
  • NM_001122764.3:c.502C>TMANE SELECT
  • NM_001350128.2:c.403C>T
  • NM_001350129.2:c.94C>T
  • NM_001350130.2:c.16C>T
  • NM_001350131.2:c.16C>T
  • NM_001365398.1:c.502C>T
  • NM_001365399.1:c.502C>T
  • NM_001365400.1:c.94C>T
  • NM_001365401.1:c.16C>T
  • NP_000300.1:p.Arg168Cys
  • NP_001116236.1:p.Arg168Cys
  • NP_001337057.1:p.Arg135Cys
  • NP_001337058.1:p.Arg32Cys
  • NP_001337059.1:p.Arg6Cys
  • NP_001337060.1:p.Arg6Cys
  • NP_001352327.1:p.Arg168Cys
  • NP_001352328.1:p.Arg168Cys
  • NP_001352329.1:p.Arg32Cys
  • NP_001352330.1:p.Arg6Cys
  • LRG_1078t1:c.502C>T
  • LRG_1078:g.7072C>T
  • LRG_1078p1:p.Arg168Cys
  • NC_000001.10:g.161138252C>T
  • P50336:p.Arg168Cys
Protein change:
R135C; ARG168CYS
Links:
UniProtKB: P50336#VAR_003688; OMIM: 600923.0004; dbSNP: rs121918325
NCBI 1000 Genomes Browser:
rs121918325
Molecular consequence:
  • NM_000309.5:c.502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001122764.3:c.502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350128.2:c.403C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350129.2:c.94C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350130.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350131.2:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365398.1:c.502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365399.1:c.502C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365400.1:c.94C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365401.1:c.16C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Variegate porphyria, childhood-onset (VPCO)
Synonyms:
VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT
Identifiers:
MONDO: MONDO:0957577; MedGen: CN372717; OMIM: 620483

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029449OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1996) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.

Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG, Meissner DM, Kirsch RE, Dailey HA.

Nat Genet. 1996 May;13(1):95-7.

PubMed [citation]
PMID:
8673113

Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.

Warnich L, Kotze MJ, Groenewald IM, Groenewald JZ, van Brakel MG, van Heerden CJ, de Villiers JN, van de Ven WJ, Schoenmakers EF, Taketani S, Retief AE.

Hum Mol Genet. 1996 Jul;5(7):981-4.

PubMed [citation]
PMID:
8817334

Details of each submission

From OMIM, SCV000029449.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

For discussion of the C-to-T transition in codon 168 of the PPOX gene, resulting in an arg168-to-cys (R168C) substitution, that was found in compound heterozygous state in a girl of Afrikaner origin with childhood-onset variegate porphyria (VPCO; 620483) by Meissner et al. (1996), see 600923.0003.

Warnich et al. (1996) identified heterozygosity for this exon 6 mutation (R168C) in the PPOX gene in 1 of 17 South African patients with variegate porphyria (VP; 176200). This mutation would abolish a DsaI restriction site in genomic DNA of affected individuals, and was shown to be associated with a different haplotype for the exon 1 polymorphism A(26)-C(150) than were the R59W (600923.0003) or H20P (600923.0005) mutations.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024