Variant position: 151 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 466 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 LLAELEQLKGQGKSRLGDLY EEEMRELRRQVDQLTNDKARV
Chimpanzee LLAELEQLKGQGKSRLGDLY EEEMRELRRQVDQLTNDKARV
Mouse LLAELEQLKGQGKSRLGDLY EEEMRELRRQVDQLTNDKARV
Rat LLAELEQLKGQGKSRLGDLY EEEMRELRRQVDQLTNDKARV
Pig LLAELEQLKGQGKSRLGDLY EEEMRELRRQVDQLTNDKARV
Bovine LLAELEQLKGQGKSRLGDLY EEEMRELRRQVDQLTNDKARV
Chicken LLAELEQLKGKGTSRLGDLY EEEMRDVRRQVDQLTNDKARV
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 – 466 Vimentin
103 – 411 IF rod
132 – 153 Linker 1
139 – 139 N6-acetyllysine; alternate
144 – 144 Phosphoserine
168 – 168 N6-acetyllysine
139 – 139 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Dominant cataract formation in association with a vimentin assembly disrupting mutation.
Muller M.; Bhattacharya S.S.; Moore T.; Prescott Q.; Wedig T.; Herrmann H.; Magin T.M.;
Hum. Mol. Genet. 18:1052-1057(2009)
Cited for: VARIANT CTRCT30 LYS-151; CHARACTERIZATION OF VARIANT CTRCT30 LYS-151;
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.