Variant position: 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 993 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 DTSQKEAVLFALSQKELAII HGPPGTGKTTTVVEIILQAVK
Mouse DLSQKEAVSFALAQKELAII HGPPGTGKTTTVVEIILQAVK
Rat DPSQKEAVSFALAQKEVAII HGPPGTGKTTTVVEIILQAVK
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 – 993 DNA-binding protein SMUBP-2
207 – 213
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann K.; Schuelke M.; Diers A.; Hoffmann K.; Lucke B.; Adams C.; Bertini E.; Leonhardt-Horti H.; Muntoni F.; Ouvrier R.; Pfeufer A.; Rossi R.; Van Maldergem L.; Wilmshurst J.M.; Wienker T.F.; Sendtner M.; Rudnik-Schoeneborn S.; Zerres K.; Huebner C.;
Nat. Genet. 29:75-77(2001)
Cited for: VARIANTS HMN6 ARG-213; LYS-514 AND ILE-580;
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