Taperin

Alternative Names

  • TPRN
  • Chromosome 9 Open Reading Frame 75
  • C9orf75
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OMIM Number

613354

NCBI Gene ID

286262

Uniprot ID

Q4KMQ1

Length

9,123 bases

No. of Exons

4

No. of isoforms

4

Protein Name

Taperin

Molecular Mass

75556 Da

Amino Acid Count

711

Genomic Location

chr9:137,191,619-137,200,741

Gene Map Locus
9q34.3

Description

This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001128228.3:c.117delUnited Arab EmiratesNC_000009.12:g.137200597delLikely PathogenicDeafness, Autosomal Recessive 79NG_027801.2:g.8599del; NM_001128228.3:c.117del; NP_001121700.2:p.Ala41ArgfsTer409
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