ClinVar

NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)

Gene:

MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 46018629 (on Assembly GRCh38)
• Chr17: 44095995 (on Assembly GRCh37)

Preferred name:

NM_001377265.1(MAPT):c.2185G>A (p.Val729Met)

HGVS:

• NC_000017.11:g.46018629G>A
• NG_007398.2:g.129167G>A
• NM_001123066.4:c.2014G>A
• NM_001123067.4:c.922G>A
• NM_001203251.2:c.829G>A
• NM_001203252.2:c.916G>A
• NM_001377265.1:c.2185G>AMANE SELECT
• NM_001377266.1:c.1894G>A
• NM_001377267.1:c.771+4351G>A
• NM_001377268.1:c.742G>A
• NM_005910.6:c.1009G>A
• NM_016834.5:c.835G>A
• NM_016835.5:c.1960G>A
• NM_016841.5:c.742G>A
• NP_001116538.2:p.Val672Met
• NP_001116539.1:p.Val308Met
• NP_001190180.1:p.Val277Met
• NP_001190181.1:p.Val306Met
• NP_001364194.1:p.Val729Met
• NP_001364195.1:p.Val632Met
• NP_001364197.1:p.Val248Met
• NP_005901.2:p.Val337Met
• NP_005901.2:p.Val337Met
• NP_058518.1:p.Val279Met
• NP_058519.3:p.Val654Met
• NP_058525.1:p.Val248Met
• LRG_660t1:c.1960G>A
• LRG_660t2:c.2185G>A
• LRG_660:g.129167G>A
• LRG_660p1:p.Val654Met
• LRG_660p2:p.Val729Met
• NC_000017.10:g.44095995G>A
• NG_007398.1:g.129219G>A
• NM_005910.5:c.1009G>A
• NR_165166.1:n.840G>A
• P10636:p.Val654Met

This HGVS expression did not pass validation

Protein change:

V248M; VAL337MET

Links:

UniProtKB: P10636#VAR_010351; OMIM: 157140.0008; dbSNP: rs63750570

NCBI 1000 Genomes Browser:

rs63750570

Molecular consequence:

• NM_001377267.1:c.771+4351G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001123066.4:c.2014G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001123067.4:c.922G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001203251.2:c.829G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001203252.2:c.916G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377265.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377266.1:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377268.1:c.742G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005910.6:c.1009G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016834.5:c.835G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016835.5:c.1960G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016841.5:c.742G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_165166.1:n.840G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]