Variant position: 11 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 119 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 MSRSVALAVL ALLSLSGLEAIQRTPKIQVYS
Gorilla MSRSVALAVL ALLSLSGLEAIQRTPKIQVYS
Rhesus macaque MSRSVALAVL ALLSLSGLEAIQRTPKIQVYS
Chimpanzee MSRSVALAVL ALLSLSGLEAIQRTPKIQVYS
Mouse MARSVTLVFL VLVSLTGLYAIQKTPQIQVYS
Rat MARSVTVIFL VLVSLAVVLAIQKTPQIQVYS
Pig MAPLVALVLL GLLSLSGLDAVARPPKVQVYS
Bovine MARFVALVLL GLLSLSGLDAIQRPPKIQVYS
Rabbit ---------- ----------VQRAPNVQVYS
Sheep MAVSAALVLL GLLSLSGLDAIQRIPEVQVYS
Cat MARFVVLVLL GLLYLSHLDAVQHSPKVQVYS
Horse MARVVALVLL GLLSLTGLEAVPRVPKVQVYS
Chicken MGKAAAVVLV TLVALLGLAQADLTPKVQVYS
Xenopus laevis --MKIALVLL SLLALTLAESNISPPVVKVYT
Zebrafish MRALITFALL CLLYIT-VQGKVSTPKVHVYS
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 – 20
22 – 22 Pyrrolidone carboxylic acid; in form pI 5.3
21 – 21 N-linked (Glc) (glycation); in hemodialysis-associated amyloidosis
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.
Wani M.A.; Haynes L.D.; Kim J.; Bronson C.L.; Chaudhury C.; Mohanty S.; Waldmann T.A.; Robinson J.M.; Anderson C.L.;
Proc. Natl. Acad. Sci. U.S.A. 103:5084-5089(2006)
Cited for: VARIANT IMD43 PRO-11; CHARACTERIZATION OF VARIANT IMD43 PRO-11;
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.