Variant position: 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 281 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 MILTKAQYDEIAQCLVSVP PTRQSLRKLKQRFPSQSQATL
Mouse MILTKAQYEEIAQCLVSVP PTRQSLRKLKQRFPSQSQATL
Bovine MILTKAQYDEIAQCLVSVP PTRQSLRKLKQRFPSQSQATL
Chicken MKLTKAQYDEIAQFLGHVQ PTRQSLRKLKEKFPSQSQSTL
Xenopus laevis MRLSKAQYDEIALFISTLR PTRQCMKRLKERFPCQSQSTL
Xenopus tropicalis MLLSKAQYDEIALFITTLR PTRQCMRRLKERFPCQSQSTL
Zebrafish LRICRAEYRSISRFVEQLR PTRQCMKTLQTHFTHLPASTL
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 – 281 CDAN1-interacting nuclease 1
1 – 98 Missing. In isoform 2.
Congenital dyserythropoietic anemia type 1: a case with novel compound heterozygous mutations in the C15orf41 gene.
Palmblad J.; Sander B.; Bain B.; Klimkowska M.; Bjoerck E.;
Am. J. Hematol. 0:0-0(2018)
Cited for: VARIANTS CDAN1B ARG-20 AND CYS-236;
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