Variant position: 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 205 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 ITGKHEERQDEHGYISRCFT RKYTLPPGVDPTQVSSSLSPE
Mouse ITGKHEERQDEHGYISRCFT RKYTLPPGVDPTLVSSSLSPE
Rat ITGKHEERQDEHGYISRCFT RKYTLPPGVDPTLVSSSLSPE
Pig ITGKHEERQDEHGFISRCFT RKYTLPPGVDPTQVSSSLSPE
Bovine ITGKHEERQDEHGYISRCFT RKYTLPPGVDPTLVSSSLSPE
Chicken ITGKHEEKQDEHGFISRCFT RKYTLPPGVEATAVRSSLSPD
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.
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.
Houlden H.; Laura M.; Wavrant-De Vrieze F.; Blake J.; Wood N.; Reilly M.M.;
Cited for: VARIANTS HMN2B LEU-39; ARG-84; MET-99; PHE-135 AND GLY-140;
Physico-chemical properties of R140G and K141Q mutants of human small heat shock protein HspB1 associated with hereditary peripheral neuropathies.
Nefedova V.V.; Datskevich P.N.; Sudnitsyna M.V.; Strelkov S.V.; Gusev N.B.;
Cited for: CHARACTERIZATION OF VARIANTS HMN2B GLY-140 AND GLN-141;
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