Sequence information
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:
MILTKAQYDEIAQCLVSVP
P TRQSLRKLKQRFPSQSQATL
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 MILTKAQYDEIAQCLVSVPP TRQSLRKLKQRFPSQSQATL
Mouse MILTKAQYEEIAQCLVSVPP TRQSLRKLKQRFPSQSQATL
Bovine MILTKAQYDEIAQCLVSVPP TRQSLRKLKQRFPSQSQATL
Chicken MKLTKAQYDEIAQFLGHVQP TRQSLRKLKEKFPSQSQSTL
Xenopus laevis MRLSKAQYDEIALFISTLRP TRQCMKRLKERFPCQSQSTL
Xenopus tropicalis MLLSKAQYDEIALFITTLRP TRQCMRRLKERFPCQSQSTL
Zebrafish LRICRAEYRSISRFVEQLRP TRQCMKTLQTHFTHLPASTL
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
Chain
1 – 281
CDAN1-interacting nuclease 1
Alternative sequence
1 – 98
Missing. In isoform 2.
Literature citations
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;
Disclaimer:
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.