Variant position: 53 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 FGLPRLPEEWSQWLGGSSWP GYVRPLPPAAIESPAV----AAPAY
Mouse FGVPRLPDEWSQWFSAAGWP GYVRPLPAATAEGPAAVTL-A
Rat FGVPRFPDEWSQWFSSAGWP GYVRPLPAATAEGPAAVTL-A
Pig FGLPRLPEEWSQWLSHSGWP GYVRPLPPPAIEGPAAV---A
Bovine FGLPRLPEEWSQWLSHSGWP GYVRALPAAAIEGPA------
Chicken FGMPHIPEDWYKWPSGSAWP GYFRLLPSESALLPA-----P
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 – 205 Heat shock protein beta-1
65 – 65 Phosphoserine
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A.; Geuens T.; Petiot P.; Pereon Y.; Adriaenssens E.; Haidar M.; Capponi S.; Maisonobe T.; Fournier E.; Dubourg O.; Degos B.; Salachas F.; Lenglet T.; Eymard B.; Delmont E.; Pouget J.; Juntas Morales R.; Goizet C.; Latour P.; Timmerman V.; Stojkovic T.;
Hum. Mutat. 38:556-568(2017)
Cited for: VARIANTS HMN2B SER-7; LEU-39; ASP-53; TRP-127; ARG-128; ILE-151; 175-GLN--LYS-205 DEL; ILE-180 AND LEU-187; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS HMN2B SER-7; ASP-53; ARG-128 AND LEU-187;
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.