Variant position: 205 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 371 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 YLSAPEREHLASMIHLTPTQ VKIWFQNHRYKMKRQAKDKAA
Mouse YLSAPEREHLASMIHLTPTQ VKIWFQNHRYKMKRQAKDKAA
Rat YLSAPEREHLASMIHLTPTQ VKIWFQNHRYKMKRQAKDKAA
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 – 371 Homeobox protein Nkx-2.1
161 – 220 Homeobox
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.
Krude H.; Schuetz B.; Biebermann H.; von Moers A.; Schnabel D.; Neitzel H.; Toennies H.; Weise D.; Lafferty A.; Schwarz S.; DeFelice M.; von Deimling A.; van Landeghem F.; DiLauro R.; Grueters A.;
J. Clin. Invest. 109:475-480(2002)
Cited for: VARIANT CAHTP PHE-205;
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A.; Schnittert-Huebener S.; Schrumpf P.; Mueller I.; Jyrch S.; Dame C.; Biebermann H.; Kleinau G.; Katchanov J.; Schuelke M.; Ebert G.; Steininger A.; Boennemann C.; Brockmann K.; Christen H.J.; Crock P.; deZegher F.; Griese M.; Hewitt J.; Ivarsson S.; Huebner C.; Kapelari K.; Plecko B.; Rating D.; Stoeva I.; Ropers H.H.; Grueters A.; Ullmann R.; Krude H.;
J. Med. Genet. 51:375-387(2014)
Cited for: VARIANTS CAHTP ARG-203 AND PHE-205;
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.