Variant position: 155 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 806 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 LKPYFLEAYRPIRKGDIFLV RGGMRAVEFKVVETDPSPYCI
Mouse LKPYFLEAYRPIRKGDIFLV RGGMRAVEFKVVETDPSPYCI
Rat LKPYFLEAYRPIRKGDIFLV RGGMRAVEFKVVETDPSPYCI
Pig LKPYFLEAYRPIRKGDIFLV RGGMRAVEFKVVETDPSPYCI
Bovine LKPYFLEAYRPIRKGDIFLV RGGMRAVEFKVVETDPSPYCI
Xenopus laevis LKPYFLEAYRPIRKGDIFLV RGGMRAVEFKVVETDPSPYCI
Xenopus tropicalis LKPYFLEAYRPIRKGDIFLV RGGMRAVEFKVVETDPSPYCI
Zebrafish LKPYFLEAYRPIRKGDIFLV RGGMRAVEFKVVETDPSPYCI
Drosophila LKPYFLEAYRPIHMGDNFIV RAAMRPIEFKVVLTDPEPYCI
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 – 806 Transitional endoplasmic reticulum ATPase
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.
Watts G.D.J.; Wymer J.; Kovach M.J.; Mehta S.G.; Mumm S.; Darvish D.; Pestronk A.; Whyte M.P.; Kimonis V.E.;
Nat. Genet. 36:377-381(2004)
Cited for: VARIANTS IBMPFD1 GLY-95; CYS-155; HIS-155; PRO-155; GLN-191 AND GLU-232;
Mutant valosin-containing protein causes a novel type of frontotemporal dementia.
Schroeder R.; Watts G.D.J.; Mehta S.G.; Evert B.O.; Broich P.; Fliessbach K.; Pauls K.; Hans V.H.; Kimonis V.; Thal D.R.;
Ann. Neurol. 57:457-461(2005)
Cited for: VARIANT IBMPFD1 CYS-155;
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.