Sequence information
Variant position: 552 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1159 The length of the canonical sequence.
Location on the sequence:
LVRVARKLDRYSEYGAAVLF
L LMCTFALIAHWLACIWYAIG
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 LVRVARKLDRYSEYGAAVLFL LMCTFALIAHWLACIWYAIG
Mouse LVRVARKLDRYSEYGAAVLFL LMCTFALIAHWLACIWYAIG
Rat LVRVARKLDRYSEYGAAVLFL LMCTFALIAHWLACIWYAIG
Rabbit LVRVARKLDRYSEYGAAVLLL LMCTFALIAHWLACIWYAIG
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
Chain
1 – 1159
Potassium voltage-gated channel subfamily H member 2
Transmembrane
548 – 568
Helical; Name=Segment S5
Literature citations
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester D.J.; Will M.L.; Haglund C.M.; Ackerman M.J.;
Heart Rhythm 2:507-517(2005)
Cited for: VARIANTS LQT2 ILE-26; LEU-29; SER-31; ARG-53; LEU-55; PRO-65; ARG-70; PRO-78; VAL-85; GLN-100; SER-238; TRP-306; LEU-320; CYS-328; CYS-420; MET-421; THR-422; SER-427; TYR-456; TYR-475 DEL; CYS-534; SER-552; THR-561; VAL-561; PRO-562; LEU-571; SER-572; CYS-582; SER-584; ASP-588; ARG-596; SER-604; MET-613; VAL-614; PHE-622; ILE-623; SER-628; VAL-628; ALA-630; SER-633; ILE-635; VAL-640; PHE-641; 671-ALA--THR-675 DEL; LEU-721; TYR-774; TRP-784; ASP-788; CYS-805; ARG-820; MET-822; GLY-837; HIS-887; VAL-913; ARG-925; ILE-983; ILE-996 AND ASP-1036;
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger J.D.; Tester D.J.; Salisbury B.A.; Carr J.L.; Harris-Kerr C.; Pollevick G.D.; Wilde A.A.; Ackerman M.J.;
Heart Rhythm 6:1297-1303(2009)
Cited for: VARIANTS LQT2 ALA-16; GLY-20; LEU-29; THR-30; THR-32; PHE-41; TYR-45; ASP-53; HIS-54; PRO-57; TRP-64; ARG-70; ASN-70; 72-PRO--ALA-80 DELINS ARG-PRO-VAL; GLN-72; LEU-72; ARG-74; MET-74; PRO-74; VAL-85; PRO-86; GLY-94; GLN-100; TRP-100; ALA-102; TYR-106; ARG-108; SER-114; CYS-125; LEU-141; ALA-149; HIS-164; VAL-218; GLY-242; ASN-259; ASP-277; THR-291; LEU-301; CYS-312; SER-314; ASN-323; CYS-328; ARG-402; MET-421; CYS-427; LEU-431; LEU-440; LEU-451; TYR-466; ASN-473; CYS-475; ILE-476; THR-490; CYS-493; SER-493; ASN-501; TRP-531; CYS-534; LEU-534; SER-552; GLU-558; THR-561; VAL-561; ARG-562; THR-565; ASP-572; SER-572; VAL-572; CYS-582; ARG-584; SER-584; CYS-585; LYS-593; ASP-594; HIS-596; LEU-596; CYS-597; ARG-599; CYS-601; SER-601; SER-604; LEU-605; SER-605; GLY-609; MET-613; VAL-614; CYS-616; ASP-626; SER-628; ILE-629; SER-629; ILE-634; ASP-635; LYS-635; ASP-637; ASN-638; LYS-638 DEL; LEU-644; PHE-644; ILE-645; SER-648; ARG-657; LEU-660; THR-662; PRO-678; TYR-687; PRO-693; VAL-711; PHE-728; VAL-749; ASN-757; TYR-767; ALA-770; TYR-774; LYS-788; 791-ARG--LEU-799 DEL; TRP-791; GLU-806; MET-822; TRP-823; TYR-837; SER-846; CYS-885; CYS-894; LEU-894; ARG-903; LEU-906; VAL-913; GLN-920; TRP-920; GLN-922; ALA-924; GLU-924; ASN-937; GLN-1005; HIS-1007; TRP-1033; MET-1038; PRO-1049; VAL-1066; CYS-1078; LEU-1093 AND VAL-1115;
Disclaimer:
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.