Variant position: 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1120 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 GENHYFSMFLHINQTYLLME QLANYAIRRLFDKETFDNDPV
Mouse GENHYFSMFLHINETYLLME QLANYAIKRLFDKETFDNDPV
Zebrafish GEDHFFSMLLRLQQTYLIMQ QLADYAIVRFFDKETFHAEHP
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 – 1120 TBC1 domain family member 8B
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways.
Dorval G.; Kuzmuk V.; Gribouval O.; Welsh G.I.; Bierzynska A.; Schmitt A.; Miserey-Lenkei S.; Koziell A.; Haq S.; Benmerah A.; Mollet G.; Boyer O.; Saleem M.A.; Antignac C.;
Am. J. Hum. Genet. 104:348-355(2019)
Cited for: VARIANTS NPHS20 HIS-246 AND SER-291; CHARACTERIZATION OF VARIANTS NPHS20 HIS-246 AND SER-291; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; ALTERNATIVE SPLICING; INTERACTION WITH RAB11B;
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.