Variant position: 259 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 391 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 DKAGTRENQPAVVHLQGQGS AIQVKNDLSGGVLNDWSRITM
Mouse DKTGTRENQPAVVHLQGQGS AIQVKNDLSGGVLNDWSRITM
Bovine DKAGTRENQPAVVHLQGQGS AIQVKNDLSGGVLNDWSRITM
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 – 391 Ectodysplasin-A, membrane form
160 – 391 Ectodysplasin-A, secreted form
63 – 391 Extracellular
136 – 391 Missing. In isoform 2.
143 – 391 Missing. In isoform 5.
148 – 391 Missing. In isoform 4, isoform 6 and isoform 7.
257 – 261
EDA gene mutations underlie non-syndromic oligodontia.
Song S.; Han D.; Qu H.; Gong Y.; Wu H.; Zhang X.; Zhong N.; Feng H.;
J. Dent. Res. 88:126-131(2009)
Cited for: VARIANTS STHAGX1 GLU-259; CYS-289 AND HIS-334;
Functional study of ectodysplasin-a mutations causing non-syndromic tooth agenesis.
Shen W.; Wang Y.; Liu Y.; Liu H.; Zhao H.; Zhang G.; Snead M.L.; Han D.; Feng H.;
PLoS ONE 11:E0154884-E0154884(2016)
Cited for: CHARACTERIZATION OF VARIANTS XHED LEU-252; CYS-343 AND ARG-374; CHARACTERIZATION OF VARIANTS STHAGX1 GLU-259; CYS-289; HIS-334; CYS-343 AND ARG-374; FUNCTION;
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.