Variant position: 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 324 The length of the canonical sequence.
Location on the sequence:
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 DQTLELVGLPPPPPPPARRI AVPVLVRDGKPCLGDSAPYAP
Mouse DQTLELLGPP---PPPARRI AVPVLVRDGKPCLGDPAAYAP
Rat DQTLELLGPP---PPPARRI AVPVLVRDGKPCLGDSAAYAP
Chicken DQTLEMVGIP---PP--RRI AVPVLVRDGKPCLGESSPYSS
Xenopus laevis DQTLEMVGLP---PP--RRI AVPVLVRDGKPCLGESSPYNS
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
1 – 324 Homeobox protein Nkx-2.5
208 – 282 Ala/Pro-rich
113 – 324 Missing. In isoform 3.
152 – 324 Missing. In isoform 2.
NKX2.5 mutations in patients with tetralogy of fallot.
Goldmuntz E.; Geiger E.; Benson D.W.;
Cited for: VARIANTS TOF GLN-21; CYS-25; CYS-216 AND VAL-219;
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;
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
Reamon-Buettner S.M.; Borlak J.;
J. Med. Genet. 41:684-690(2004)
Cited for: VARIANTS ASD7 PRO-7; SER-19; CYS-25; PRO-45; LEU-51; PRO-69; LEU-77; SER-114; ARG-114; ARG-118; ARG-124; VAL-126; SER-133; THR-135; PRO-144; MET-178; GLU-183; THR-192; ARG-192; ARG-194; GLU-205; VAL-219; ASN-226; HIS-248; PRO-279; PHE-279; VAL-281; VAL-286; HIS-294; GLY-299; GLY-305; SER-320 AND GLN-322;
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;
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.