UniProtKB/Swiss-Prot P21583: Variant p.Arg32Cys

Kit ligand
Gene: KITLG
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Variant information Variant position:

32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Arginine (R) to Cysteine (C) at position 32 (R32C, p.Arg32Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 WS2F; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1870699640 [ dbSNP | Ensembl ]

Sequence information Variant position:

32 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:

IYLQLLLFNPLVKTEGICRN R VTNNVKDVTKLVANLPKDYM 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                         IYLQLLLFNPLVKTEGICRNRVTNNVKDVTKLVANLPKDYM

                              IYLQLLLFNPLVKTKGICGKRVTDDVKDVTKLVANLPKDYK

Mouse                         IYLQLLLFNPLVKTKEICGNPVTDNVKDITKLVANLPNDYM

Rat                           IYLQLLLFNPLVKTQEICRNPVTDNVKDITKLVANLPNDYM

Pig                           IYLQLLLFNPLVRTQGICRNRVTDDVKDVTKLVANLPKDYK

Bovine                        IYLQLLLFNPLVHTQGICSNRVTDDVKDVTKLVANLPKDYM

Goat                          IYLQLLLFNPLVHSQGICRNRVTDDVKDVTKLVANLPKDYM

Cat                           IYLQLLLFNPLVKTKGLCRNRVTDDVKDVTKLVANLPKDYK

Horse                         IYLQLLLFNPLVKTKGICENRVTDDVKDVTKLVANLPKDYK

Chicken                       FCLQLLLLNPLVKAQSSCGNPVTDDVNDIAKLVGNLPNDYL

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
Chain	26 – 273	Kit ligand
Chain	26 – 190	Soluble KIT ligand
Topological domain	26 – 214	Extracellular
Disulfide bond	29 – 114
Alternative sequence	1 – 35	Missing. In isoform 3.
Turn	30 – 32

Literature citations
Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.
Ogawa Y.; Kono M.; Akiyama M.;
Pigment Cell Melanoma Res. 30:501-504(2017)
Cited for: VARIANT WS2F CYS-32; INVOLVEMENT IN WS2F; Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Vona B.; Schwartzbaum D.A.; Rodriguez A.A.; Lewis S.S.; Toosi M.B.; Radhakrishnan P.; Bozan N.; Akin R.; Doosti M.; Manju R.; Duman D.; Sineni C.J.; Nampoothiri S.; Karimiani E.G.; Houlden H.; Bademci G.; Tekin M.; Girisha K.M.; Maroofian R.; Douzgou S.;
J. Eur. Acad. Dermatol. Venereol. 36:1606-1611(2022)
Cited for: VARIANTS WS2F CYS-32; THR-148 AND 215-TRP--VAL-273 DEL; INVOLVEMENT IN WS2F;

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.