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UniProtKB/Swiss-Prot Q12809: Variant p.Thr436Met

Voltage-gated inwardly rectifying potassium channel KCNH2
Gene: KCNH2
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Variant information Variant position: help 436
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Methionine (M) at position 436 (T436M, p.Thr436Met).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (M)
BLOSUM score: help -1
Variant description: help In LQT2.
Other resources: help


Sequence information Variant position: help 436
Protein sequence length: help 1159
Location on the sequence: help LLVIYTAVFTPYSAAFLLKE T EEGPPATECGYACQPLAVVD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1159 Voltage-gated inwardly rectifying potassium channel KCNH2
Topological domain 425 – 450 Extracellular



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.