Variant position: 489 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 767 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 HNTPIPQGGRGAIQFVTHYQ HSSTQRRIRVTTIARNWADVQ
Mouse HNAPVPQGGRGAIQFVTQYQ HSSTQKRIRVTTIARNWADAQ
Bovine HNAPIPQGGRGAIQFVTHYQ HSSTQRRIRVTTVARNWADVQ
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 – 767 Protein transport protein Sec23B
Cloning and functional characterization of mammalian homologues of the COPII component Sec23.
Paccaud J.-P.; Reith W.; Carpentier J.-L.; Ravazzola M.; Amherdt M.; Schekman R.; Orci L.;
Mol. Biol. Cell 7:1535-1546(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLN-489; TISSUE SPECIFICITY;
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
Bianchi P.; Fermo E.; Vercellati C.; Boschetti C.; Barcellini W.; Iurlo A.; Marcello A.P.; Righetti P.G.; Zanella A.;
Hum. Mutat. 30:1292-1298(2009)
Cited for: VARIANTS CDAN2 TRP-14; LYS-109; ALA-348; CYS-497; LEU-603 AND CYS-701; VARIANT GLN-489;
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