UniProtKB/Swiss-Prot Q15643: Variant p.Gly1827Ser

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1827 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 Glycine (G) to Serine (S) at position 1827 (G1827S, p.Gly1827Ser). 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 glycine (G) to small size and polar (S) 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 rs1051340 [ dbSNP | Ensembl ]

Sequence information

Variant position: 1827 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1979 The length of the canonical sequence.
Location on the sequence: GSILGVRREEMEQLFHDDQG G VTRWMTGWLGGGSKSVPNTP 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.
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	2 – 1979	Thyroid receptor-interacting protein 11
Modified residue	1842 – 1842	Phosphoserine
Modified residue	1846 – 1846	Phosphothreonine

Literature citations

GMAP-210, a cis-Golgi network-associated protein, is a minus end microtubule-binding protein.
Infante C.; Ramos-Morales F.; Fedriani F.; Bornens M.; Rios R.M.;
J. Cell Biol. 145:83-98(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INTERACTION WITH MICROTUBULES; VARIANT SER-1827; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS LEU-39 AND SER-1827; Fusion of the platelet-derived growth factor receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution.
Abe A.; Emi N.; Tanimoto M.; Terasaki H.; Marunouchi T.; Saito H.;
Blood 90:4271-4277(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1188-1979; CHROMOSOMAL TRANSLOCATION WITH PDGFRB; TISSUE SPECIFICITY; VARIANT SER-1827; Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor.
Lee J.W.; Choi H.-S.; Gyuris J.; Brent R.; Moore D.D.;
Mol. Endocrinol. 9:243-254(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1757-1944; INTERACTION WITH THRB; VARIANT SER-1827;