Variant position: 298 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 443 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 GTGHYLCNACGLYHKMNGQN RPLIKPKRRLSAARRAGTSCA
Mouse GTGHYLCNACGLYHKMNGQN RPLIKPKRRLSAARRAGTSCA
Bovine GTGHYLCNACGLYHKMNGQN RPLIKPKRRLSAARRAGTSCA
Chicken GTGHYLCNACGLYHKMNGQN RPLIKPKRRLSAARRAGTSCA
Xenopus laevis GTGHYLCNACGLYHKMNGQN RPLIKPKRRLSAARRAGTSCA
Zebrafish GTGHYLCNACGLYHKMNGQN RPLIKPKRRLSAARRAGTSCA
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 – 443 Trans-acting T-cell-specific transcription factor GATA-3
288 – 316 Flexible linker
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome.
Okawa T.; Yoshida M.; Usui T.; Kudou T.; Iwasaki Y.; Fukuoka K.; Takahashi N.; Uehara Y.; Oiso Y.;
BMC Endocr. Disord. 15:66-66(2015)
Cited for: VARIANT HDR GLN-298; CHARACTERIZATION OF VARIANT HDR GLN-298;
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