Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1836 The length of the canonical sequence.
Location on the sequence:
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 DPYYSNKKTFIVLNKGKAIF RFSATPALYLLSPFSVVRRGA
Mouse DPYYSDKKTFIVLNKGKAIF RFSATPALYMLSPFSIVRRVA
Rat DPYYSDKKTFIVLNKGKAIF RFSATPALYLLSPFSIVRRVA
Horse DPYYSNKKTFIVLNKGKAIF RFSATPALYMLSPFSIIRRSA
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
1 – 1836 Sodium channel protein type 4 subunit alpha
1 – 131 Cytoplasmic
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva I.T.; Thor M.G.; Oates E.C.; van Karnebeek C.; Hendson G.; Blom E.; Witting N.; Rasmussen M.; Gabbett M.T.; Ravenscroft G.; Sframeli M.; Suetterlin K.; Sarkozy A.; D'Argenzio L.; Hartley L.; Matthews E.; Pitt M.; Vissing J.; Ballegaard M.; Krarup C.; Sloerdahl A.; Halvorsen H.; Ye X.C.; Zhang L.H.; Loekken N.; Werlauff U.; Abdelsayed M.; Davis M.R.; Feng L.; Phadke R.; Sewry C.A.; Morgan J.E.; Laing N.G.; Vallance H.; Ruben P.; Hanna M.G.; Lewis S.; Kamsteeg E.J.; Maennikkoe R.; Muntoni F.;
Cited for: INVOLVEMENT IN FETAL HYPOKINESIA AND CONGENITAL MYOPATHY; VARIANTS HIS-104; LYS-203; TRP-225; THR-382; ASN-1069; CYS-1135 AND PHE-1209; CHARACTERIZATION OF VARIANTS HIS-104; LYS-203; TRP-225; THR-382; ASN-1069 AND PHE-1209; FUNCTION; SUBCELLULAR LOCATION;
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.