Variant position: 744 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 821 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 IKAWQKIFKHYDTDQSGTIN SYEMRNAVNDAGFHLNNQLYD
Mouse IKAWQKIFKHYDTDHSGTIN SYEMRNAVNDAGFHLNSQLYD
Rat IKAWQKIFKHYDTDHSGTIN SYEMRNAVNDAGFHLNSQLYD
Pig IKSWQKIFKHYDTDQSGTIN SYEMRNAVNDAGFHLNNQLYD
Bovine IKTWQKIFKHYDTDQSGTIN SYEMRNAVKDAGFHLNNQLYD
Sheep IKTWQKIFKHYDTDQSGTIN SYEMRNAVNDAGFHLNNQLYD
Chicken IKSWQKIFKHYDADHSGTIN SYEMRNAVKDAGFRLNNQLYD
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.
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion island.
Fardeau M.; Hillaire D.; Mignard C.; Feingold N.; Feingold J.; Mignard D.; de Ubeda B.; Collin H.; Tome F.M.S.; Richard I.; Beckmann J.S.;
Cited for: VARIANTS LGMDR1 GLN-572 AND GLY-744;
Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.
Penisson-Besnier I.; Richard I.; Dubas F.; Beckmann J.S.; Fardeau M.;
Muscle Nerve 21:1078-1080(1998)
Cited for: VARIANT LGMDR1 GLY-744;
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.