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NM_000190.4(HMBS):c.242T>C (p.Leu81Pro) AND Encephalopathy, porphyria-related

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2004
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:
RCV003764513.3

Allele description [Variation Report for NM_000190.4(HMBS):c.242T>C (p.Leu81Pro)]

NM_000190.4(HMBS):c.242T>C (p.Leu81Pro)

Gene:
HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_000190.4(HMBS):c.242T>C (p.Leu81Pro)
HGVS:
  • NC_000011.10:g.119089248T>C
  • NG_008093.1:g.9372T>C
  • NM_000190.4:c.242T>CMANE SELECT
  • NM_001024382.2:c.191T>C
  • NM_001258208.2:c.242T>C
  • NM_001258209.2:c.191T>C
  • NP_000181.2:p.Leu81Pro
  • NP_001019553.1:p.Leu64Pro
  • NP_001245137.1:p.Leu81Pro
  • NP_001245138.1:p.Leu64Pro
  • LRG_1076t1:c.242T>C
  • LRG_1076t2:c.191T>C
  • LRG_1076:g.9372T>C
  • LRG_1076p1:p.Leu81Pro
  • LRG_1076p2:p.Leu64Pro
  • NC_000011.9:g.118959958T>C
  • P08397:p.Leu81Pro
Protein change:
L64P; LEU81PRO
Links:
UniProtKB: P08397#VAR_025563; OMIM: 609806.0045; dbSNP: rs118204119
NCBI 1000 Genomes Browser:
rs118204119
Molecular consequence:
  • NM_000190.4:c.242T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001024382.2:c.191T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258208.2:c.242T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258209.2:c.191T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Encephalopathy, porphyria-related (ENCEP)
Identifiers:
MONDO: MONDO:0958224; MedGen: CN376852; OMIM: 620704

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021705OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2004) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.

Hessels J, Voortman G, van der Wagen A, van der Elzen C, Scheffer H, Zuijderhoudt FM.

J Inherit Metab Dis. 2004;27(1):19-27. Review.

PubMed [citation]
PMID:
14970743

Details of each submission

From OMIM, SCV000021705.4

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

Description

In a 7-year-old boy, born of consanguineous Turkish parents, with porphyria-related encephalopathy (ENCEP; 620704), Hessels et al. (2004) identified a homozygous leu81-to-pro (L81P) substitution in exon 6 of the HMBS gene. Porphobilinogen activity in red cells was decreased to 2 to 4%. Both parents were heterozygous and asymptomatic. Leu81 in PBG deaminase is an evolutionarily conserved residue in the second alpha helix, suggesting its structural importance for preservation of enzyme activity.

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

Last Updated: Nov 3, 2024