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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54132: Variant p.Cys1055Ser

RecQ-like DNA helicase BLM
Gene: BLM
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Variant information Variant position: help 1055 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Serine (S) at position 1055 (C1055S, p.Cys1055Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In BLM. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1055 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1417 The length of the canonical sequence.
Location on the sequence: help ECRRIQLLAYFGENGFNPDF C KKHPDVSCDNCCKTKDYKTR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ECRRIQLLAYFGENGFNPDFCKKHPDVSCDNCCKTK----DYKTR

Mouse                         ECRRIQLLAYFGEKGFNPDFCKKYPDVSCDNCCKTK----D

Chicken                       DCRRIQLLAYFGETDFNPNFCKDHPEVICDNCSRKK----D

Xenopus laevis                ECRRMQLLSYFGENNFNPNFCKEHTQVACDNCLGKK----N

Caenorhabditis elegans        VCRRKMLVEHFGEV-YDEQSCRNSKTP-CDICERQRKNAEA

Drosophila                    DCRRAQQLDYFGEH-FTSEQCLENRETACDNCINKR----A
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1417 RecQ-like DNA helicase BLM
Binding site 1036 – 1036
Binding site 1055 – 1055
Binding site 1063 – 1063
Binding site 1066 – 1066
Helix 1054 – 1057



Literature citations
The Bloom's syndrome gene product is homologous to RecQ helicases.
Ellis N.A.; Groden J.; Ye T.-Z.; Straughen J.; Lennon D.J.; Ciocci S.; Proytcheva M.; German J.;
Cell 83:655-666(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS BLM ARG-672; ILE-843 AND SER-1055;
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.