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.
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.
Uyguner O.; Tukel T.; Baykal C.; Eris H.; Emiroglu M.; Hafiz G.; Ghanbari A.; Baserer N.; Yuksel-Apak M.; Wollnik B.;
Clin. Genet. 62:306-309(2002)
Cited for: VARIANT PPKDFN GLN-75;
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
Piazza V.; Beltramello M.; Menniti M.; Colao E.; Malatesta P.; Argento R.; Chiarella G.; Gallo L.V.; Catalano M.; Perrotti N.; Mammano F.; Cassandro E.;
Clin. Genet. 68:161-166(2005)
Cited for: VARIANT PPKDFN GLN-75; CHARACTERIZATION OF VARIANT PPKDFN GLN-75;
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.