Paralogue Annotation for SCN5A residue 945

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 945
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 945

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D998G	Dravet syndrome	High	5	18930999

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	LLVFLLVMVIGNLVVLNLFLALLLSSFS-A>D<NLTAP-DEDREM-NNLQL-ALARIQRGLRF	972
SCN1A	LTVFMMVMVIGNLVVLNLFLALLLSSFS-A>D<NLAAT-DDDNEM-NNLQI-AVDRMHKGVAY	1025
SCN2A	LTVFMMVMVIGNLVVLNLFLALLLSSFS-S>D<NLAAT-DDDNEM-NNLQI-AVGRMQKGIDF	1016
SCN3A	LIVFMLVMVIGNLVVLNLFLALLLSSFS-S>D<NLAAT-DDDNEM-NNLQI-AVGRMQKGIDY	1017
SCN4A	LTVFLMVMVIGNLVVLNLFLALLLSSFS-A>D<SLAAS-DEDGEM-NNLQI-AIGRIKLGIGF	835
SCN7A	IPFYLMVILIGNLLVLYLFLA-LVSSFS-S>C<KDVTA-EENNEA-KNLQL-AVARIKKGINY	761
SCN8A	LIVFMMVMVIGNLVVLNLFLALLLSSFS-A>D<NLAAT-DDDGEM-NNLQI-SVIRIKKGVAW	1010
SCN9A	LIVYMMVMVIGNLVVLNLFLALLLSSFS-S>D<NLTAI-EEDPDA-NNLQI-AVTRIKKGINY	990
SCN10A	LILFLTVMVLGNLVVLNLFIALLLNSFS-A>D<NLTAP-EDDGEV-NNLQV-ALARIQV---F	920
SCN11A	VIVFILITVIGKLVVLNLFIALLLNSFS-N>E<ERNGNLEGEARK-TKVQL-ALDRFRRAFCF	845
CACNA1A	SIYFIVLTLFGNYTLLNVFLAIAVDNLANA>Q<ELTKDEQEEEEA-ANQKL-ALQKAKEVAEV	749
CACNA1B	SFYFIVLTLFGNYTLLNVFLAIAVDNLANA>Q<ELTKDEEEMEEA-ANQKL-ALQKAKEVAEV	745
CACNA1C	CIYFIILFICGNYILLNVFLAIAVDNLADA>E<SLTSAQKEEEEE-KERKK-LART---AS--	783
CACNA1D	CIYFIILFICGNYILLNVFLAIAVDNLADA>E<SLNTAQKEEAEE-KERKK-IARK---ES--	802
CACNA1E	AIYFIVLTLFGNYTLLNVFLAIAVDNLANA>Q<ELTKDEQEEEEA-FNQKH-ALQKAKEVSPM	738
CACNA1F	CIYFIILFICGNYILLNVFLAIAVDNLASG>D<A-GTAKDKGGEK-SNEKDLPQEN---EG--	788
CACNA1G	ALYFIALMTFGNYVLFNLLVAILVEGFQ-A>E<EISKREDASGQL-SCIQL-PVDSQGGDANK	998
CACNA1H	ALYFVALMTFGNYVLFNLLVAILVEGFQ-A>E<GDANRSDTDEDKTSVHFEEDFHKL------	1045
CACNA1I	SLYFVALMTFGNYVLFNLLVAILVEGFQAE>G<DAN-RSYSDEDQSSSNIE-EFDKLQE----	893
CACNA1S	CIYFIILFVCGNYILLNVFLAIAVDNLAEA>E<SLTSAQKAKAEE-KKRRK-MSKGLPDKS--	694
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D945G	c.2834A>G	Putative Benign			SIFT: Polyphen: