Variant position: 50 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 IFRIMILVVAAKEVWGDEQA DFVCNTLQPGCKNVCYDHYFP
Gorilla IFRIMILVVAAKEVWGDEQA DFVCNTLQPGCKNVCYDHYFP
Rhesus macaque IFRIMILVVAAKEVWGDEQA DFVCNTLQPGCKNVCYDHYFP
Mouse IFRIMILVVAAKEVWGDEQA DFVCNTLQPGCKNVCYDHHFP
Rat IFRIMILVVAAKEVWGDEQA DFVCNTLQPGCKNVCYDHYFP
Bovine IFRIMILVVAAKEVWGDEQA DFVCNTLQPGCKNVCYDHYFP
Sheep IFRIMILVVAAKEVWGDEQA DFVCNTLQPGCKNVCYDHYFP
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 – 226 Gap junction beta-2 protein
41 – 73 Extracellular
42 – 42 Calcium; shared with neighboring subunit
45 – 45 Calcium; via carbonyl oxygen
47 – 47 Calcium
34 – 34 M -> A. Loss of gap junction ion conductance, probably due to very low open probability of the channels. Can form functional channels with wild-type, but with strongly reduced channel conductance. No visible effect on channel assembly and membrane insertion.
47 – 50
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Richard G.; Rouan F.; Willoughby C.E.; Brown N.; Chung P.; Ryynanen M.; Jabs E.W.; Bale S.J.; DiGiovanna J.J.; Uitto J.; Russell L.;
Am. J. Hum. Genet. 70:1341-1348(2002)
Cited for: VARIANTS KIDAD ARG-12; PHE-17 AND ASN-50;
HID and KID syndromes are associated with the same connexin 26 mutation.
van Geel M.; van Steensel M.A.M.; Kuester W.; Hennies H.C.; Happle R.; Steijlen P.M.; Koenig A.;
Br. J. Dermatol. 146:938-942(2002)
Cited for: VARIANT HID SYNDROME ASN-50;
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.
Alvarez A.; Del Castillo I.; Pera A.; Villamar M.; Moreno-Pelayo M.A.; Moreno F.; Moreno R.; Tapia M.C.;
Am. J. Med. Genet. A 117:89-91(2003)
Cited for: VARIANT KIDAD ASN-50;
Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.
Yotsumoto S.; Hashiguchi T.; Chen X.; Ohtake N.; Tomitaka A.; Akamatsu H.; Matsunaga K.; Shiraishi S.; Miura H.; Adachi J.; Kanzaki T.;
Br. J. Dermatol. 148:649-653(2003)
Cited for: VARIANTS KIDAD ASN-50 AND TYR-50;
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.