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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08034: Variant p.Ala147Asp

Gap junction beta-1 protein
Gene: GJB1
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Variant information Variant position: help 147
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Aspartate (D) at position 147 (A147D, p.Ala147Asp).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and acidic (D)
BLOSUM score: help -2
Variant description: help In CMTX1.


Sequence information Variant position: help 147
Protein sequence length: help 283
Location on the sequence: help ISGTLWWTYVISVVFRLLFE A VFMYVFYLLYPGYAMVRLVK
Residue conservation: help 
Human                         ISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVK

Mouse                         ISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVK

Rat                           ISGTLWWTYVISVVFRLLFEAVFMYVFYLLYPGYAMVRLVK

Bovine                        ISGTLWWTYVISVVFRLLFEAAFMYVFYLLYPGYAMVRLVK

Horse                         ISGTLWWTYVISVVFRLLFEAAFMYVFYLLYPGYAMVRLVK

Xenopus laevis                ISGTLWWTYISSVFFRIIFEAAFMYIFYLIYPGYSMIRLLK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 Gap junction beta-1 protein
Transmembrane 131 – 153 Helical
Helix 130 – 156



Literature citations
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
Numakura C.; Lin C.; Ikegami T.; Guldberg P.; Hayasaka K.;
Hum. Mutat. 20:392-398(2002)
Cited for: VARIANTS CMTX1 TRP-75; GLN-75; VAL-120 DEL; MET-139; LYS-146; ASP-147; VAL-209 DEL AND CYS-264;
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.