Variant position: 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 273 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 LLLFNPLVKTEGICRNRVTN NVKDVTKLVANLPKDYMITLK
Mouse LLLFNPLVKTKEICGNPVTD NVKDITKLVANLPNDYMITLN
Rat LLLFNPLVKTQEICRNPVTD NVKDITKLVANLPNDYMITLN
Pig LLLFNPLVRTQGICRNRVTD DVKDVTKLVANLPKDYKITLK
Bovine LLLFNPLVHTQGICSNRVTD DVKDVTKLVANLPKDYMITLK
Goat LLLFNPLVHSQGICRNRVTD DVKDVTKLVANLPKDYMITLK
Cat LLLFNPLVKTKGLCRNRVTD DVKDVTKLVANLPKDYKIALK
Horse LLLFNPLVKTKGICENRVTD DVKDVTKLVANLPKDYKITLK
Chicken LLLLNPLVKAQSSCGNPVTD DVNDIAKLVGNLPNDYLITLK
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
26 – 273 Kit ligand
26 – 190 Soluble KIT ligand
26 – 214 Extracellular
29 – 114
36 – 43 NVKDVTKL -> MPSCLAAQ. In isoform 3.
Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.
Wang Z.-Q.; Si L.; Tang Q.; Lin D.; Fu Z.; Zhang J.; Cui B.; Zhu Y.; Kong X.; Deng M.; Xia Y.; Xu H.; Le W.; Hu L.; Kong X.;
Am. J. Hum. Genet. 84:672-677(2009)
Cited for: VARIANT FPHH SER-36; CHARACTERIZATION OF VARIANT FPHH SER-36;
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.