UniProtKB/Swiss-Prot P33076: Variant p.Arg174Gly

MHC class II transactivator
Gene: CIITA
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Variant information Variant position:

174 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 Arginine (R) to Glycine (G) at position 174 (R174G, p.Arg174Gly). 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 large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs8046121 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1130 The length of the canonical sequence.
Location on the sequence:

DLKHWKPAEPPTVVTGSLLV R PVSDCSTLPCLPLPALFNQE 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                         DLKHWKPAEPPTVVTGSLLVRPVSDCSTLPCLPLPALFNQE

Mouse                         DSKHRK-----------------------------------

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 – 1130	MHC class II transactivator
Alternative sequence	161 – 210	AEPPTVVTGSLLVRPVSDCSTLPCLPLPALFNQEPASGQMRLEKTDQIPM -> V. In isoform 2 and isoform 3.

Literature citations
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome).
Steimle V.; Otten L.A.; Zufferey M.; Mach B.;
Cell 75:135-146(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANTS MHC2D1 LYS-120 DELINS ILE-GLU AND 940-THR--ALA-963 DEL; VARIANTS GLY-174; ALA-500 AND ARG-900; Activation of class II MHC genes requires both the X box region and the class II transactivator (CIITA).
Riley J.L.; Westerheide S.D.; Price J.A.; Brown J.A.; Boss J.M.;
Immunity 2:533-543(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); FUNCTION; VARIANTS MHC2D1 LYS-120 DELINS ILE-GLU; GLY-174; ALA-500 AND ARG-900; ALTERNATIVE SPLICING; K-562 cells lack MHC class II expression due to an alternatively spliced CIITA transcript with a truncated coding region.
Day N.E.; Ugai H.; Yokoyama K.K.; Ichiki A.T.;
Leuk. Res. 27:1027-1038(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); VARIANTS GLY-174 AND ALA-500; ALTERNATIVE SPLICING; Submission
Livingston R.J.; Shaffer T.; McFarland I.; Nguyen C.P.; Stanaway I.B.; Rajkumar N.; Johnson E.J.; da Ponte S.H.; Willa H.; Ahearn M.O.; Bertucci C.; Acklestad J.; Carroll A.; Swanson J.; Gildersleeve H.I.; Nickerson D.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-174 AND ARG-900;

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.