Variant position: 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 239 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QIYRSLLALPQDLQAARALM VISCLLSGIACACAVIGMKCT
Mouse QIYRSLLALPRDLQAARALM VISCLLSGMACACAVVGMKCT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 239 Claudin-14
82 – 102 Helical
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.
Wilcox E.R.; Burton Q.L.; Naz S.; Riazuddin S.; Smith T.N.; Ploplis B.; Belyantseva I.; Ben-Yosef T.; Liburd N.A.; Morell R.J.; Kachar B.; Wu D.K.; Griffith A.J.; Riazuddin S.; Friedman T.B.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT DFNB29 ASP-85;
Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.
Lee K.; Ansar M.; Andrade P.B.; Khan B.; Santos-Cortez R.L.; Ahmad W.; Leal S.M.;
Am. J. Med. Genet. A 158:315-321(2012)
Cited for: VARIANTS DFNB29 HIS-81; ASP-85 AND ARG-232;
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.
Bashir Z.E.; Latief N.; Belyantseva I.A.; Iqbal F.; Amer Riazuddin S.; Khan S.N.; Friedman T.B.; Riazuddin S.; Riazuddin S.;
J. Hum. Genet. 58:102-108(2013)
Cited for: VARIANTS DFNB29 HIS-81; ASP-85; ILE-87 AND VAL-94; VARIANT VAL-86;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.