U.S. flag

An official website of the United States government

NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) AND Waardenburg syndrome type 2A

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2000
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:
RCV000015347.29

Allele description [Variation Report for NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)]

NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)

Gene:
MITF:melanocyte inducing transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p13
Genomic location:
Preferred name:
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)
HGVS:
  • NC_000003.12:g.69964880T>C
  • NG_011631.1:g.230399T>C
  • NM_000248.4:c.892T>C
  • NM_001184967.2:c.1039T>C
  • NM_001354604.2:c.1213T>CMANE SELECT
  • NM_001354605.2:c.1210T>C
  • NM_001354606.2:c.1192T>C
  • NM_001354607.2:c.1144T>C
  • NM_001354608.2:c.1039T>C
  • NM_006722.3:c.1192T>C
  • NM_198158.3:c.874T>C
  • NM_198159.3:c.1195T>C
  • NM_198177.3:c.1147T>C
  • NM_198178.3:c.706T>C
  • NP_000239.1:p.Ser298Pro
  • NP_000239.1:p.Ser298Pro
  • NP_001171896.1:p.Ser347Pro
  • NP_001341533.1:p.Ser405Pro
  • NP_001341534.1:p.Ser404Pro
  • NP_001341535.1:p.Ser398Pro
  • NP_001341536.1:p.Ser382Pro
  • NP_001341537.1:p.Ser347Pro
  • NP_006713.1:p.Ser398Pro
  • NP_937801.1:p.Ser292Pro
  • NP_937802.1:p.Ser399Pro
  • NP_937820.1:p.Ser383Pro
  • NP_937821.2:p.Ser236Pro
  • LRG_776t1:c.892T>C
  • LRG_776:g.230399T>C
  • LRG_776p1:p.Ser298Pro
  • NC_000003.11:g.70014031T>C
  • NM_000248.3:c.892T>C
Protein change:
S236P; SER298PRO
Links:
OMIM: 156845.0008; dbSNP: rs104893747
NCBI 1000 Genomes Browser:
rs104893747
Molecular consequence:
  • NM_000248.4:c.892T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001184967.2:c.1039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354604.2:c.1213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354605.2:c.1210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354606.2:c.1192T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354607.2:c.1144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354608.2:c.1039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006722.3:c.1192T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198158.3:c.874T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198159.3:c.1195T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198177.3:c.1147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198178.3:c.706T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Waardenburg syndrome type 2A (WS2A)
Synonyms:
WAARDENBURG SYNDROME WITHOUT DYSTOPIA CANTHORUM
Identifiers:
MONDO: MONDO:0008671; MedGen: C1860339; Orphanet: 3440; OMIM: 193510

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035606OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2000)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

The mutational spectrum in Waardenburg syndrome.

Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai D, Krajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, et al.

Hum Mol Genet. 1995 Nov;4(11):2131-7.

PubMed [citation]
PMID:
8589691

Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.

Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher DE, Tachibana M.

Hum Mol Genet. 2000 Jan 1;9(1):125-32.

PubMed [citation]
PMID:
10587587

Details of each submission

From OMIM, SCV000035606.4

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

Description

Tassabehji et al. (1995) found that affected members of a family with type 2 Waardenburg syndrome (WS2A; 193510) had a ser298-to-pro substitution in their MITF gene. Takeda et al. (2000) showed that ser298, which is located downstream of the basic helix-loop-helix leucine zipper, plays an important role in MITF function. They found that glycogen synthase kinase-3 (GSK3) phosphorylated ser298 in vitro, thereby enhancing the binding of MITF to the tyrosinase promoter. The same serine was found to be phosphorylated in vivo, and expression of dominant-negative GSK3-beta selectively suppressed the ability of MITF to transactivate the tyrosinase promoter. Moreover, mutation of ser298 disabled phosphorylation of MITF by GSK3-beta and impaired MITF function.

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

Last Updated: Nov 30, 2024