Paralogue Annotation for KCNH2 residue 1075

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 1075
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 1075

No paralogue variants have been mapped to residue 1075 for KCNH2.



KCNH2DMATVLQ--------------LLQRQMTLV>P<PAYSAVTTP---------------------1084
KCNH1ITKSDLR--------------LDNVGEARS>P<QDRSPILAEVKHSF-------------YPI917
KCNH3LSEQVLQ--------------MREGLQSLR>Q<AVQLVLAPHREGP-------------CPRA921
KCNH4LNQEVSQ--------------LSRELRHIM>G<LLQARLGPP------------------GHP918
KCNH5ITKSDLR--------------LDKAGEARS>P<LEHSPIQADAKHPF-------------YPI901
KCNH6DLDDCSP--------------KHRNSSPRM>P<--HLAVATD---------------------926
KCNH7DIQTILQ--------------LLQKQTTVV>P<PAYSMVTAGSEYQR-------------PII1085
KCNH8LTQEVSQ--------------LGKDMRNVI>Q<LLENVLSPQQPSRFCSLHSTSVCPSRESLQ923
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4------------------------------>-<------------------------------
CNGB1------------------------------>-<------------------------------
CNGB3------------------------------>-<------------------------------
HCN1SQPSLPHEVSTLISRPHPTVG----ESLAS>I<PQPVTAVPGTGLQ-----------------828
HCN2SQPSLPHGAPGPAASTRPAS---------->-<------------------------------842
HCN3SQPSLPQRATGDGSPGRKGS---------->-<------------------------------734
HCN4SQPALPQDGAQTLRRASPHSSGESMAAFPL>F<PRAGGGSGGSGS------------------1131
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1075Lc.3224C>T Inherited ArrhythmiaLQTSrs199473028SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381