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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Pro58Arg

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 58
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Arginine (R) at position 58 (P58R, p.Pro58Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In CMTX1.


Sequence information Variant position: help 58
Protein sequence length: help 283
Location on the sequence: help VAAESVWGDEKSSFICNTLQ P GCNSVCYDQFFPISHVRLWS
Residue conservation: help 
Human                         VAAESVWGDEKSSFICNTLQPGCNSVCYDQFFPISHVRLWS

Mouse                         VAAESVWGDEKSSFICNTLQPGCNSVCYDHFFPISHVRLWS

Rat                           VAAESVWGDEKSSFICNTLQPGCNSVCYDHFFPISHVRLWS

Bovine                        VAAESVWGDEKSSFICNTLQPGCNSVCYDHFFPISHVRLWS

Horse                         VAAESVWGDEKSSFICNTLQPGCNSVCYDHFFPISHVRLWS

Xenopus laevis                AAAESVWGDEKSAFTCNTQQPGCNSVCYDHFFPISHIRLWA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Topological domain 46 – 75 Extracellular



Literature citations
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
Silander K.; Meretoja P.; Juvonen V.; Ignatius J.; Pihko H.; Saarinen A.; Wallden T.; Herrgaard E.; Aula P.; Savontaus M.-L.;
Hum. Mutat. 12:59-68(1998)
Cited for: VARIANTS CMTX1 GLN-22; ARG-58; ILE-63; LEU-172; ASP-175 AND PHE-204;
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.