Variant position: 524 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 607 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 SSNAFATNQTHQGSYNTFRL HSPCALYGYNFSTSPKLAASP
Mouse SGNAFAANQTHQSSYNTFRL HSPCALYGYNFSTSPKLAASP
Caenorhabditis elegans -------------------- ---------------------
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 – 607 T-box transcription factor TBX18
Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development.
Vivante A.; Kleppa M.J.; Schulz J.; Kohl S.; Sharma A.; Chen J.; Shril S.; Hwang D.Y.; Weiss A.C.; Kaminski M.M.; Shukrun R.; Kemper M.J.; Lehnhardt A.; Beetz R.; Sanna-Cherchi S.; Verbitsky M.; Gharavi A.G.; Stuart H.M.; Feather S.A.; Goodship J.A.; Goodship T.H.; Woolf A.S.; Westra S.J.; Doody D.P.; Bauer S.B.; Lee R.S.; Adam R.M.; Lu W.; Reutter H.M.; Kehinde E.O.; Mancini E.J.; Lifton R.P.; Tasic V.; Lienkamp S.S.; Jueppner H.; Kispert A.; Hildebrandt F.;
Am. J. Hum. Genet. 97:291-301(2015)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH SIX1 AND TLE3; INVOLVEMENT IN CAKUT2; VARIANTS CAKUT2 GLU-163 AND TYR-524; CHARACTERIZATION OF VARIANTS CAKUT2 GLU-163 AND TYR-524; VARIANTS THR-164 AND SER-526;
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.