Variant position: 75 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 TLQPGCKNVCYDHYFPISHI RLWALQLIFVSTPALLVAMHV
Gorilla TLQPGCKNVCYDHYFPISHI RLWALQLIFVSTPALLVAMHV
Rhesus macaque TLQPGCKNVCYDHYFPISHI RLWALQLIFVSTPALLVAMHV
Mouse TLQPGCKNVCYDHHFPISHI RLWALQLIMVSTPALLVAMHV
Rat TLQPGCKNVCYDHYFPISHI RLWALQLIMVSTPALLVAMHV
Bovine TLQPGCKNVCYDHYFPISHI RLWALQLIFVSTPALLVAMHV
Sheep TLQPGCKNVCYDHYFPISHI RLWALQLIFVSTPALLVAMHV
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.
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
Richard G.; White T.W.; Smith L.E.; Bailey R.A.; Compton J.G.; Paul D.L.; Bale S.J.;
Hum. Genet. 103:393-399(1998)
Cited for: VARIANT PPKDFN TRP-75;
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;
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.