UniProtKB/SwissProt variant VAR

Variant information

Variant position:

347

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 Asparagine (N) to Lysine (K) at position 347 (N347K, p.Asn347Lys).

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 medium size and polar (N) to large size and basic (K)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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:

347

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:

KEGERRTTHNIIEKRYRSSI N DKIIELKDLVMGTDAKMHKS

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                         KEGERRTTHNIIEKRYRSSINDKIIELKDLVMGTDAKMHKS

Mouse                         KEGERRTTHNIIEKRYRSSINDKIIELKDLVMGTDAKMHKS

Rat                           KEGERRTTHNIIEKRYRSSINDKIIELKDLVMGTDAKMHKS

Xenopus laevis                KEGERRTTHNIIEKRYRSSINDKIMELKDLVMGTDAKMHKS

Zebrafish                     KEGERRTTHNIIEKRYRSSINDKILELRDLVLGNDAKMHKS

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 – 1141	Sterol regulatory element-binding protein 2
Chain	1 – 484	Processed sterol regulatory element-binding protein 2
Topological domain	1 – 479	Cytoplasmic
Domain	330 – 380	bHLH
Region	237 – 491	Interaction with LMNA
Helix	346 – 357

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;

UniProtKB/Swiss-Prot Q12772: Variant p.Asn347Lys