UniProtKB/Swiss-Prot P36956: Variant p.Thr1000Ala

Sterol regulatory element-binding protein 1
Gene: SREBF1
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Variant information Variant position:

1000 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 Threonine (T) to Alanine (A) at position 1000 (T1000A, p.Thr1000Ala). 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 (T) to small size and hydrophobic (A) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1042017 [ dbSNP | Ensembl ]

Sequence information Variant position:

1000 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1147 The length of the canonical sequence.
Location on the sequence:

VRTSLWRQQQPPAPAPAAQG T SSRPQASALELRGFQRDLSS 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                         VRTSLWRQQQPPAPAPAAQGTSSRPQASALELRGFQRDLSS

Mouse                         ARTSLWQRQQSPASVQVAHGTSNGPQASALELRGFQHDLSS

Rat                           ARTSLWRRQQSAASAQGAHGTSNGPQASALELRGFQHDLSS

Pig                           ARTSLWQRQKPPPPSQASQGSSSGAQASALELRGFQRDLSG

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 – 1147	Sterol regulatory element-binding protein 1
Topological domain	569 – 1147	Cytoplasmic
Alternative sequence	471 – 1147	Missing. In isoform SREBP-1aDelta and isoform SREBP-1cDelta.

Literature citations
SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene.
Yokoyama C.; Wang X.; Briggs M.R.; Admon A.; Wu J.; Hua X.; Goldstein J.L.; Brown M.S.;
Cell 75:187-197(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SREBP-1A); NUCLEOTIDE SEQUENCE [MRNA] OF 1-29 (ISOFORM SREBP-1C); NUCLEOTIDE SEQUENCE [MRNA] OF 1035-1147 (ISOFORMS SREBP-1B AND SREBP-1C); PARTIAL PROTEIN SEQUENCE; VARIANT ALA-1000; FUNCTION; TISSUE SPECIFICITY; Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13.
Hua X.; Wu J.; Goldstein J.L.; Brown M.S.; Hobbs H.H.;
Genomics 25:667-673(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-1000;

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.