Variant position: 119 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 DPDPAKDPRAEKKELCALQK AVELEKTEADNAERPRARRRR
Mouse DPDPAKDPRADKKELCALQK AVELDKAETDGAERPRARRRR
Rat DPDPAKDPRADKKELCALQK AVELDKAETDGAERRRPRRRR
Chicken EMDTAKDSKADKKELCALHK SLEQEKRELEDPERPRQRKRR
Xenopus laevis EMD-SKDPKDHKKDICPLQK TLEHDKREAEDPERPRQRKRR
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
112 – 151 ELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVY -> GCELPRGQRPPVLFSSALSQPDFLQMLSETCRWLPVHLAE. In isoform 2.
112 – 112 E -> A. In isoform 3.
113 – 324 Missing. In isoform 3.
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.
Dentice M.; Cordeddu V.; Rosica A.; Ferrara A.M.; Santarpia L.; Salvatore D.; Chiovato L.; Perri A.; Moschini L.; Fazzini C.; Olivieri A.; Costa P.; Stoppioni V.; Baserga M.; De Felice M.; Sorcini M.; Fenzi G.; Di Lauro R.; Tartaglia M.; Macchia P.E.;
J. Clin. Endocrinol. Metab. 91:1428-1433(2006)
Cited for: VARIANTS CHNG5 CYS-25; SER-119 AND PRO-161; CHARACTERIZATION OF VARIANTS CHNG5 CYS-25; SER-119 AND PRO-161;
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.