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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43657: Variant p.Asp63Val

Lysophosphatidic acid receptor 6
Gene: LPAR6
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Variant information Variant position: help 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Valine (V) at position 63 (D63V, p.Asp63Val). 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: help Change from medium size and acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In ARWH1 and HYPT8; loss of G protein-coupled receptor signaling; reduced localization to cell membrane; decreased protein abundance; increased protein degradation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 344 The length of the canonical sequence.
Location on the sequence: help ICVLKVRNETTTYMINLAMS D LLFVFTLPFRIFYFTTRNWP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ICVLKVRNETTTYMINLAMSDLLFVFTLPFRIFYFTTRNWP

Mouse                         ICALKVRNETTTYMINLAMSDLLFVFTLPFRIFYFATRNWP

Rat                           ICALKVRNETTTYMINLAMSDLLFVFTLPFRIFYFATRNWP

Chicken                       TFTLKVRNETTTYMLNLAISDLLFVFTLPFRIYYFVVRNWP
Sequence annotation in neighborhood: help 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 1 – 344 Lysophosphatidic acid receptor 6
Transmembrane 56 – 79 Helical; Name=2



Literature citations
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).
Azeem Z.; Jelani M.; Naz G.; Tariq M.; Wasif N.; Kamran-Ul-Hassan Naqvi S.; Ayub M.; Yasinzai M.; Amin-Ud-Din M.; Wali A.; Ali G.; Chishti M.S.; Ahmad W.;
Hum. Genet. 123:515-519(2008)
Cited for: VARIANTS HYPT8 THR-3; VAL-63; ARG-146 AND LYS-189; INVOLVEMENT IN HYPT8; Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.
Shimomura Y.; Wajid M.; Ishii Y.; Shapiro L.; Petukhova L.; Gordon D.; Christiano A.M.;
Nat. Genet. 40:335-339(2008)
Cited for: VARIANTS ARWH1 VAL-63; PHE-188 AND LYS-189; TISSUE SPECIFICITY; Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families.
Tariq M.; Ayub M.; Jelani M.; Basit S.; Naz G.; Wasif N.; Raza S.I.; Naveed A.K.; ullah Khan S.; Azeem Z.; Yasinzai M.; Wali A.; Ali G.; Chishti M.S.; Ahmad W.;
Br. J. Dermatol. 160:1006-1010(2009)
Cited for: VARIANTS HYPT8 VAL-63; ARG-146; PHE-188; TYR-248 AND PRO-277; Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
Khan S.; Habib R.; Mir H.; Kalsoom U.; Naz G.; Ayub M.; Shafique S.; Yamin T.; Ali N.; Basit S.; Wasif N.; Kamran-Ul-Hassan Naqvi S.; Ali G.; Wali A.; Ansar M.; Ahmad W.;
Clin. Exp. Dermatol. 36:652-654(2011)
Cited for: VARIANTS ARWH1 VAL-63 AND PHE-188; VARIANT HYPT8 ARG-146; Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
Ahmad F.; Sharif S.; Furqan Ubaid M.; Shah K.; Khan M.N.; Umair M.; Azeem Z.; Ahmad W.;
Congenit. Anom. (Kyoto) 58:24-28(2018)
Cited for: VARIANT ARWH1 VAL-63; Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
Yanagida K.; Masago K.; Yasuda D.; Hamano F.; Kurikawa Y.; Shimizu T.; Ishii S.;
Hum. Mol. Genet. 32:825-834(2023)
Cited for: CHARACTERIZATION OF VARIANTS HYPT8 THR-3; ARG-146; TYR-248 AND PRO-277; CHARACTERIZATION OF VARIANTS ARWH1 VAL-63; PHE-188; LYS-189 AND TYR-278; MUTAGENESIS OF ASN-246; SUBCELLULAR LOCATION;
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.