Variant position: 49 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 VNSYYPTPPAPMPGPTTGLV TGP------DGKGMNPPSYYTQPAPIP
Mouse VNSYYPTPPAPMPGPATGLI TGP------DGKGMNPPSYYT
Rat VNSYYPTPPAPQPGPATGLI TGP------DGKGMNPPSYYT
Chicken INVNYPH-PYPVPQPG---- LRP------DGKGMNPPQYSG
Xenopus tropicalis ----FHHPPYP---PLH--- QGM------DAKNMSNPPYIV
Zebrafish ANPYYPAGPYP---PADMKA SGPPPYPTQEYNQMYPPTAQG
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
61 – 61 Y -> A. No effect on interaction with WWOX. No effect on interaction with NEDD4. Abolishes interaction with NEDD4 and impairs location at endosomes; when associated with A-23.
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.