Variant position: 575 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 869 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 QRMPLLLNPKLLSLEYPRNN IEYVRDIGEGAFGRVFQARAP
Mouse QRMPLLLNPKLLSLEYPRNN IEYVRDIGEGAFGRVFQARAP
Rat QRMPLLLNPKLLSLEYPRNN IEYVRDIGEGAFGRVFQARAP
Chicken QRMPLLLNPKLLSLEYPRNN IEYVRDIGEGAFGRVFQARAP
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
24 – 869 Muscle, skeletal receptor tyrosine-protein kinase
517 – 869 Cytoplasmic
575 – 856 Protein kinase
584 – 584 G -> CD. Mild decrease in kinase activity.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata M.B.; Mathijssen I.B.; Smit M.; Baas F.; de Vries J.I.; van der Voorn J.P.; Kluijt I.; Hagen M.A.; Blom E.W.; Sistermans E.; Meijers-Heijboer H.; Waisfisz Q.; Weiss M.M.; Groffen A.J.;
Eur. J. Hum. Genet. 23:1151-1157(2015)
Cited for: VARIANT FADS1 THR-575; INVOLVEMENT IN FADS1; CHARACTERIZATION OF VARIANT FADS1 THR-575; FUNCTION;
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.