UniProtKB/Swiss-Prot Q12772: Variant p.Ala273Ser

Sterol regulatory element-binding protein 2
Gene: SREBF2
Chromosomal location: 22q13
Variant information

Variant position:  273
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Serine (S) at position 273 (A273S, p.Ala273Ser).
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 hydrophobic (A) to small size and polar (S)
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

Variant description:  In a breast cancer sample; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  273
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1141
The length of the canonical sequence.

Location on the sequence:   LVLTTLKTDGSPVMAAVQNP  A LTALTTPIQTAALQVPTLVG
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                         LVLTTLKTDGSPVMAAVQNPA-LTALTTPIQTAALQVPTLVG

Mouse                         LVLTTLKTDGSPVMAAVQNPA-LTALTAPIQTAALQVPTLV

Rat                           LVLTTLKTDGSPVMAAVQNPA-LTALTAPIQTAALQVPTLV

Xenopus laevis                LVLTAVKADGSPVMTAVQNPA-ITTLAGTLQTTALQVPTLM

Zebrafish                     LLLTT-KPDGTQVLSTVQSPTGITTLTTPIQTTALQMPTLM

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.

TypePositionsDescription
Chain 1 – 1141 Sterol regulatory element-binding protein 2
Chain 1 – 484 Processed sterol regulatory element-binding protein 2
Topological domain 1 – 479 Cytoplasmic
Region 237 – 491 Interaction with LMNA
Alternative sequence 273 – 275 Missing. In isoform 2.


Literature citations

The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-273 AND LYS-347;

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.