Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 207 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 QASPRDPENFPFVVLGNKID LENRQVAT-KRAQAWCYSKNNI
Mouse QASPRDPENFPFVVLGNKID LENRQVAT-KRAQAWCYSKNN
Rat QASPRDPENFPFVVLGNKID LENRQVAT-KRAQAWCYSKNN
Bovine QASPRDPENFPFVVLGNKID LENRQVAT-KRAQAWCYSKNN
Rabbit QASPRDPENFPFVVLGNKID LENRQVAT-KRAQAWSYSKNN
Slime mold QAGPRDPDNFPFVVLGNKID LENQRVVSQKRAASWCQSKGN
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
2 – 207 Ras-related protein Rab-7a
Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation.
McCray B.A.; Skordalakes E.; Taylor J.P.;
Hum. Mol. Genet. 19:1033-1047(2010)
Cited for: X-RAY CRYSTALLOGRAPHY (2.80 ANGSTROMS) OF VARIANT CMT2B PHE-129 IN COMPLEX WITH GTP; CHARACTERIZATION OF VARIANTS CMT2B PHE-129 AND MET-162; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION;
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.
Verhoeven K.; De Jonghe P.; Coen K.; Verpoorten N.; Auer-Grumbach M.; Kwon J.M.; FitzPatrick D.; Schmedding E.; De Vriendt E.; Jacobs A.; Van Gerwen V.; Wagner K.; Hartung H.-P.; Timmerman V.;
Am. J. Hum. Genet. 72:722-727(2003)
Cited for: VARIANTS CMT2B PHE-129 AND MET-162; TISSUE SPECIFICITY;
Rab7 mutants associated with Charcot-Marie-Tooth disease exhibit enhanced NGF-stimulated signaling.
Basuray S.; Mukherjee S.; Romero E.; Wilson M.C.; Wandinger-Ness A.;
PLoS ONE 5:E15351-E15351(2010)
Cited for: CHARACTERIZATION OF VARIANTS CMT2B PHE-129; ASN-157; THR-161 AND MET-162;
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.