Paralogue Annotation for SCN5A residue 263

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 263
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 263

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	V261M	Neonatal-infantile seizures	High	9	20371507

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.

SCN5A	IPGLKTIVGALIQSVKKLADVMVLTVFCLS>V<FALIGLQLFMGNLRHKCVR-----------	282
SCN1A	IPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLRNKCIQ-WP-PTNASLE	288
SCN2A	IPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLRNKCLQ-WP-PDNSSFE	289
SCN3A	IPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLRNKCLQ-WP-PSDSAFE	288
SCN4A	IPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALVGLQLFMGNLRQKCVR-WP-PPFN--D	289
SCN7A	NQGLKSLVGVLIHCLKQLIGVIILTLFFLS>I<FSLIGMGLFMGNLKHKCFR-WP-QENE---	275
SCN8A	IPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLRNKCVV-WP--------	285
SCN9A	IPGLKTIVGALIQSVKKLSDVMILTVFCLS>V<FALIGLQLFMGNLKHKCFR-NS--------	279
SCN10A	IPGLKVIVGALIHSVKKLADVTILTIFCLS>V<FALVGLQLFKGNLKNKCVK-N---------	279
SCN11A	VSRLKVIVGALLRSVKKLVNVIILTFFCLS>I<FALVGQQLFMGSLNLKCIS-R---------	286
CACNA1A	IPSLQVVLKSIMKAMIPLLQIGLLLFFAIL>I<FAIIGLEFYMGKFHTTCFE-E-GTD-----	262
CACNA1B	IPSLQVVLKSIMKAMVPLLQIGLLLFFAIL>M<FAIIGLEFYMGKFHKACFP-N-STD-----	259
CACNA1C	VPSLQVVLNSIIKAMVPLLHIALLVLFVII>I<YAIIGLELFMGKMHKTCYNQEGIAD-----	306
CACNA1D	VPSLQVVLNSIIKAMVPLLHIALLVLFVII>I<YAIIGLELFIGKMHKTCFF-A-DSD-----	307
CACNA1E	IPSLQIVLKSIMKAMVPLLQIGLLLFFAIL>M<FAIIGLEFYSGKLHRACFM-N-NSG-----	257
CACNA1F	VPSLHIVLNSIMKALVPLLHIALLVLFVII>I<YAIIGLELFLGRMHKTCYF-L-GSD-----	273
CACNA1G	VPSMRILVTLLLDTLPMLGNVLLLCFFVFF>I<FGIVGVQLWAGLLRNRCFL-P-ENFSLPLS	252
CACNA1H	VPSMRILVTLLLDTLPMLGNVLLLCFFVFF>I<FGIVGVQLWAGLLRNRCFL-D-SAFVRNNN	271
CACNA1I	VPSMRILVNLLLDTLPMLGNVLLLCFFVFF>I<FGIIGVQLWAGLLRNRCFL-E-ENFTIQGD	250
CACNA1S	VPSLQVVLNSIFKAMLPLFHIALLVLFMVI>I<YAIIGLELFKGKMHKTCYF-I-GTD-----	232
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V263I	c.787G>A	Putative Benign			SIFT: Polyphen: