Variant position: 161 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 AWCYSKNNIPYFETSAKEAI NVEQAFQTIARNALKQETEVE
Mouse AWCYSKNNIPYFETSAKEAI NVEQAFQTIARNALKQETEVE
Rat AWCYSKNNIPYFETSAKEAI NVEQAFQTIARNALKQETEVE
Bovine AWCYSKNNIPYFETSAKEAI NVEQAFQTIVRNALKQETEVE
Rabbit AWSYSKNNIPYFETSAKEAI NVEQAFQTIARNALKQETEVE
Slime mold SWCQSKGNIPYFETSAKEAI NVEQAFQTIARNAIKLEDGLV
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
180 – 180 V -> A. Abolishes interaction with RILP and localization to late endosomal/lysosomal compartments.
Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.
Cogli L.; Progida C.; Thomas C.L.; Spencer-Dene B.; Donno C.; Schiavo G.; Bucci C.;
Acta Neuropathol. 125:257-272(2013)
Cited for: INTERACTION WITH PRPH; CHARACTERIZATION OF VARIANTS CMT2B PHE-129; ASN-157; THR-161 AND MET-162; MUTAGENESIS OF THR-22 AND GLN-67;
A novel RAB7 mutation associated with ulcero-mutilating neuropathy.
Houlden H.; King R.H.M.; Muddle J.R.; Warner T.T.; Reilly M.M.; Orrell R.W.; Ginsberg L.;
Ann. Neurol. 56:586-590(2004)
Cited for: VARIANT CMT2B THR-161;
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.