Variant position: 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 226 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 DEQADFVCNTLQPGCKNVCY DHYFPISHIRLWALQLIFVST
Gorilla DEQADFVCNTLQPGCKNVCY DHYFPISHIRLWALQLIFVST
Rhesus macaque DEQADFVCNTLQPGCKNVCY DHYFPISHIRLWALQLIFVST
Mouse DEQADFVCNTLQPGCKNVCY DHHFPISHIRLWALQLIMVST
Rat DEQADFVCNTLQPGCKNVCY DHYFPISHIRLWALQLIMVST
Bovine DEQADFVCNTLQPGCKNVCY DHYFPISHIRLWALQLIFVST
Sheep DEQADFVCNTLQPGCKNVCY DHYFPISHIRLWALQLIFVST
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.
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
Maestrini E.; Korge B.P.; Ocana-Sierra J.; Calzolari E.; Cambiaghi S.; Scudder P.M.; Hovnanian A.; Monaco A.P.; Munro C.S.;
Hum. Mol. Genet. 8:1237-1243(1999)
Cited for: VARIANT VOWNKL HIS-66;
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Kelsell D.P.; Wilgoss A.L.; Richard G.; Stevens H.P.; Munro C.S.; Leigh I.M.;
Eur. J. Hum. Genet. 8:141-144(2000)
Cited for: VARIANT PPKDFN HIS-66;
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
Marziano N.K.; Casalotti S.O.; Portelli A.E.; Becker D.L.; Forge A.;
Hum. Mol. Genet. 12:805-812(2003)
Cited for: CHARACTERIZATION OF VARIANTS DFNA3A SER-44 AND TRP-75; CHARACTERIZATION OF VARIANT PPKDFN ALA-59; CHARACTERIZATION OF VARIANT VOWNKL HIS-66;
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