Variant position: 77 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 379 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 TTFIDMQWRYKLLLFSATFA GTWFLFGVVWYLVAVAHGDLL
Mouse TTFIDMQWRYKLLLFSATFA GTWFLFGVVWYLVAVAHGDLL
Rat TTFIDMQWRYKLLLFSATFA GTWFLFGVVWYLVAVAHGDLL
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 – 379 ATP-sensitive inward rectifier potassium channel 10
65 – 89 Helical; Name=M1
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.
Tanemoto M.; Abe T.; Uchida S.; Kawahara K.;
FEBS Lett. 588:899-905(2014)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS SESAMES PRO-65; ARG-77; ARG-140; ILE-164; VAL-167 AND CYS-297; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH KCNJ16 AND MAGI1;
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Bockenhauer D.; Feather S.; Stanescu H.C.; Bandulik S.; Zdebik A.A.; Reichold M.; Tobin J.; Lieberer E.; Sterner C.; Landoure G.; Arora R.; Sirimanna T.; Thompson D.; Cross J.H.; van't Hoff W.; Al Masri O.; Tullus K.; Yeung S.; Anikster Y.; Klootwijk E.; Hubank M.; Dillon M.J.; Heitzmann D.; Arcos-Burgos M.; Knepper M.A.; Dobbie A.; Gahl W.A.; Warth R.; Sheridan E.; Kleta R.;
N. Engl. J. Med. 360:1960-1970(2009)
Cited for: VARIANTS SESAMES PRO-65 AND ARG-77;
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.