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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Phe69Leu

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 69
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Leucine (L) at position 69 (F69L, p.Phe69Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Variant description: help In CMTX1.


Sequence information Variant position: help 69
Protein sequence length: help 283
Location on the sequence: help SSFICNTLQPGCNSVCYDQF F PISHVRLWSLQLILVSTPAL
Residue conservation: help 
Human                         SSFICNTLQPGCNSVCYDQFFPISHVRLWSLQLILVSTPAL

Mouse                         SSFICNTLQPGCNSVCYDHFFPISHVRLWSLQLILVSTPAL

Rat                           SSFICNTLQPGCNSVCYDHFFPISHVRLWSLQLILVSTPAL

Bovine                        SSFICNTLQPGCNSVCYDHFFPISHVRLWSLQLILVSTPAL

Horse                         SSFICNTLQPGCNSVCYDHFFPISHVRLWSLQLILVSTPAL

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



Literature citations
Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.
Yoshihara T.; Yamamoto M.; Doyu M.; Misu K.; Hattori N.; Hasegawa Y.; Mokuno K.; Mitsuma T.; Sobue G.;
Hum. Mutat. 16:177-178(2000)
Cited for: VARIANTS CMTX1 LEU-69; GLN-142 AND GLN-164; Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients.
Hattori N.; Yamamoto M.; Yoshihara T.; Koike H.; Nakagawa M.; Yoshikawa H.; Ohnishi A.; Hayasaka K.; Onodera O.; Baba M.; Yasuda H.; Saito T.; Nakashima K.; Kira J.; Kaji R.; Oka N.; Sobue G.;
Brain 126:134-151(2003)
Cited for: VARIANTS CMTX1 LEU-26; ALA-55; HIS-57; ILE-63; LEU-69; MET-139; GLN-142; TRP-142; ARG-172; ALA-177; HIS-183; ALA-191 AND TYR-201;
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.