UniProtKB/Swiss-Prot P54132: Variant p.Ser1209Thr

RecQ-like DNA helicase BLM
Gene: BLM
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Variant information Variant position:

1209 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Serine (S) to Threonine (T) at position 1209 (S1209T, p.Ser1209Thr). 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:

Change from small size and polar (S) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs1801256 [ dbSNP | Ensembl ]

Sequence information Variant position:

1209 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1417 The length of the canonical sequence.
Location on the sequence:

FMETENSSSVKKQKALVAKV S QREEMVKKCLGELTEVCKSL 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                         FMETENSSSVKKQKALVAK-VSQRE--------EMVKKCLGELTEVCKSL

Mouse                         FMETENSSSIKKQKALVAK-VSQRE--------EVVKKCLG

Chicken                       FHETENASAIRKQRASVTK-MSQRE--------EMVKKCLG

Xenopus laevis                FQDTESASSIRKQKASVVTNTSQRE--------EMVKKCQA

Caenorhabditis elegans        LIELSNMNIVSEAQALKERHMVKHG--------DVFTRCLQ

Drosophila                    FAVTKNAKEAKAAVGSVSDGATSSTADGQSGMREIHERCYT

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 – 1417	RecQ-like DNA helicase BLM
Modified residue	1197 – 1197	Phosphoserine
Cross	1199 – 1199	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross	1207 – 1207	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Mutagenesis	1227 – 1227	K -> E. Reduced ssDNA binding. No change in DNA Holliday junction binding.
Beta strand	1207 – 1209

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.