UniProtKB/Swiss-Prot P31268: Variant p.Ala18Thr

Homeobox protein Hox-A7
Gene: HOXA7
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Variant information Variant position:

18 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 Alanine (A) to Threonine (T) at position 18 (A18T, p.Ala18Thr). 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 medium size and polar (T) 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 rs2301721 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MSSSYYVNALFSKYTAG A SLFQNAEPTSCSFAPNSQRS 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                         MSSSYYVNALFSKYTAGASLFQNAEPTSCSFAP-NSQRS

Chimpanzee                    MSSSYYVNALFSKYTAGASLFQNAEPTSCSFAP-NSQR

Mouse                         MSSSYYVNALFSKYTAGASLFQNAEPTSCSFAP-NSQR

Chicken                       MSSSYYVNALFSKYTAGASLFQNAEPTSCSFAS-NSQR

Xenopus laevis                MTSSYYVSALFSKFTAGASLFPNPEPTSCSSLPNNSQR

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 – 230	Homeobox protein Hox-A7

Literature citations
Human homeobox HOXA7 regulates keratinocyte transglutaminase type 1 and inhibits differentiation.
La Celle P.T.; Polakowska R.R.;
J. Biol. Chem. 276:32844-32853(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-18; Sequence characterisation and expression of homeobox HOX A7 in the multi-potential erythroleukaemic cell line TF-1.
McIlhatton M.A.; Bremner P.S.; McMullin M.F.; Maxwell A.P.; Winter P.C.; Lappin T.R.;
Biochim. Biophys. Acta 1442:329-333(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-18; Sequence analysis and tissue specific expression of human HOXA7.
Kim M.H.; Jin H.; Seol E.Y.; Yoo M.; Park H.W.;
Mol. Biotechnol. 14:19-24(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THR-18; Submission
Albrechtsen R.; Wewer U.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THR-18; Submission
Cho M.; Kim M.H.; Hwang C.Y.; Min W.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-91; VARIANT THR-18;

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.