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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P52952: Variant p.Ala323Thr

Homeobox protein Nkx-2.5
Gene: NKX2-5
Variant information Variant position: help 323 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Alanine (A) to Threonine (T) at position 323 (A323T, p.Ala323Thr). 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: help 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: help 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: help In ASD7 and TOF. Any additional useful information about the variant.

Sequence information Variant position: help 323 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 324 The length of the canonical sequence.
Location on the sequence: help VQSPGIPQSNSGVSTLHGIR A W 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         VQSPGIPQSNSGVSTLHGIRAW

Mouse                         VQSPGMPQGNSGVSTLHGIRAW

Rat                           VQSPGMPQGNSGVSTLHGIRAW

Chicken                       VQPP-IPQGNAGISTLHGIRAW

Xenopus laevis                VQTP-IQQASSVSALHHGIRAW

Sequence annotation in neighborhood: help 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.
Chain 1 – 324 Homeobox protein Nkx-2.5
Alternative sequence 113 – 324 Missing. In isoform 3.
Alternative sequence 152 – 324 Missing. In isoform 2.

Literature citations
NKX2.5 mutations in patients with congenital heart disease.
McElhinney D.B.; Geiger E.; Blinder J.; Benson D.W.; Goldmuntz E.;
J. Am. Coll. Cardiol. 42:1650-1655(2003)
Cited for: VARIANTS ASD7 ILE-15; VAL-63; GLU-127 AND THR-275; VARIANTS TOF GLN-21; PRO-22; CYS-25; CYS-216; VAL-219 AND THR-323; VARIANT CTMH ASN-291 DEL; VARIANT HLHS2 CYS-25; INVOLVEMENT IN CONGENITAL HEART MALFORMATIONS; Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
Hirayama-Yamada K.; Kamisago M.; Akimoto K.; Aotsuka H.; Nakamura Y.; Tomita H.; Furutani M.; Imamura S.; Takao A.; Nakazawa M.; Matsuoka R.;
Am. J. Med. Genet. A 135:47-52(2005)
Cited for: VARIANTS ASD7 ILE-15; GLN-21; PRO-22; CYS-25; VAL-63; GLU-127; CYS-142; MET-178; HIS-187; LYS-188; GLY-189; CYS-190; CYS-191; CYS-216; VAL-219; THR-275 AND THR-323; VARIANT HLHS2 CYS-25;
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.