Variant position: 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 269 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 KQSKQEIHRRSARLRNTKYK SAPAAEKKVSTKGKGRRHIFK
Mouse KQSKQEIHRRSARLRNTKYK SAPAAEKKVSTKGKGRRHIFK
Xenopus laevis KQSKQEIHRRSARLRNTKYK ATPAAEKKVSTKGKGRRHIFK
Zebrafish KQSKQEIHRRSARLRSTKYK -APASEKKVSTKGKGRRHIFK
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 – 269 GATA zinc finger domain-containing protein 1
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
Theis J.L.; Sharpe K.M.; Matsumoto M.E.; Chai H.S.; Nair A.A.; Theis J.D.; de Andrade M.; Wieben E.D.; Michels V.V.; Olson T.M.;
Circ. Cardiovasc. Genet. 4:585-594(2011)
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT CMD2B PRO-102; VARIANTS SER-54 AND TRP-233;
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.