Variant position: 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 161 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 MIVSQLSYNAGALTWLSCGS LCLLGCIAGCCFIPFCVDALQ
Mouse MIVTQLSYNAGALTWLSCGS LCLLGCVAGCCFIPFCVDALQ
Rat MIVTQLSYNAGALTWLSCGS LCLLGCVAGCCFIPFCVDALQ
Chicken MIVTRLCYESGALTWLSCGG LFLLGCIAGCCLIPFCVDALK
Xenopus tropicalis MITTRLEYSSGALAWLSCGG LCLLGCIGGCCLIPFCIDSLK
Zebrafish SVITRLEYSSGPLVWLSCAG LAVFGCIYGCCLIPFCIEDLK
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
1 – 161 Lipopolysaccharide-induced tumor necrosis factor-alpha factor
76 – 160 LITAF
111 – 134 Membrane-binding amphipathic helix
135 – 135 P -> T. Decreases protein stability and association with early endosome membranes. Impaired function in targeting endocytosed proteins for lysosomal degradation.
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Saifi G.M.; Szigeti K.; Wiszniewski W.; Shy M.E.; Krajewski K.; Hausmanowa-Petrusewicz I.; Kochanski A.; Reeser S.; Mancias P.; Butler I.; Lupski J.R.;
Hum. Mutat. 25:372-383(2005)
Cited for: VARIANTS CMT1C MET-49; SER-112 AND VAL-122; VARIANT VAL-92; PUTATIVE FUNCTION;
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.