Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P29033: Variant p.Ile71Thr

Gap junction beta-2 protein
Gene: GJB2
Feedback?
Variant information Variant position: help 71
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Threonine (T) at position 71 (I71T, p.Ile71Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T)
BLOSUM score: help -1
Variant description: help In DFNB1A.
Other resources: help


Sequence information Variant position: help 71
Protein sequence length: help 226
Location on the sequence: help FVCNTLQPGCKNVCYDHYFP I SHIRLWALQLIFVSTPALLV
Residue conservation: help
Human                         FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Gorilla                       FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Rhesus macaque                FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Mouse                         FVCNTLQPGCKNVCYDHHFPISHIRLWALQLIMVSTPALLV

Rat                           FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIMVSTPALLV

Bovine                        FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Sheep                         FVCNTLQPGCKNVCYDHYFPISHIRLWALQLIFVSTPALLV

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 226 Gap junction beta-2 protein
Topological domain 41 – 73 Extracellular
Disulfide bond 53 – 180
Disulfide bond 60 – 174
Disulfide bond 64 – 169



Literature citations
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A.; Yuge I.; Kimura S.; Namba A.; Abe S.; Van Laer L.; Van Camp G.; Usami S.;
Hum. Genet. 112:329-333(2003)
Cited for: VARIANTS DFNB1A ILE-37; GLU-45; THR-71; ARG-86; TRP-143 AND LEU-191; VARIANTS ILE-27; GLY-114; ASN-123 AND THR-203;
Disclaimer: 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.