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UniProtKB/Swiss-Prot P21583: Variant p.Asn36Ser

Kit ligand
Gene: KITLG
Variant information

Variant position:  36
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Asparagine (N) to Serine (S) at position 36 (N36S, p.Asn36Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In FPHH; gain-of-function mutation; sKITLG reveales that the mutant Ser-36 sKITLG increases the content of the melanin by 109% compared with the wild-type sKITLG; tyrosinase activity is significantly increased by the mutant sKITLG compared to wild-type control.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   LLLFNPLVKTEGICRNRVTN  N VKDVTKLVANLPKDYMITLK
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                         LLLFNPLVKTEGICRNRVTNNVKDVTKLVANLPKDYMITLK

                              LLLFNPLVKTKGICGKRVTDDVKDVTKLVANLPKDYKIALK

Mouse                         LLLFNPLVKTKEICGNPVTDNVKDITKLVANLPNDYMITLN

Rat                           LLLFNPLVKTQEICRNPVTDNVKDITKLVANLPNDYMITLN

Pig                           LLLFNPLVRTQGICRNRVTDDVKDVTKLVANLPKDYKITLK

Bovine                        LLLFNPLVHTQGICSNRVTDDVKDVTKLVANLPKDYMITLK

Goat                          LLLFNPLVHSQGICRNRVTDDVKDVTKLVANLPKDYMITLK

Cat                           LLLFNPLVKTKGLCRNRVTDDVKDVTKLVANLPKDYKIALK

Horse                         LLLFNPLVKTKGICENRVTDDVKDVTKLVANLPKDYKITLK

Chicken                       LLLLNPLVKAQSSCGNPVTDDVNDIAKLVGNLPNDYLITLK

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.

TypePositionsDescription
Chain 26 – 273 Kit ligand
Chain 26 – 190 Soluble KIT ligand
Topological domain 26 – 214 Extracellular
Disulfide bond 29 – 114
Alternative sequence 36 – 43 NVKDVTKL -> MPSCLAAQ. In isoform 3.


Literature citations

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;

Disclaimer: 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.