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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O94886: Variant p.Ile462Asn

CSC1-like protein 1
Gene: TMEM63A
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Variant information Variant position: help 462 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 Isoleucine (I) to Asparagine (N) at position 462 (I462N, p.Ile462Asn). 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 hydrophobic (I) to medium size and polar (N) 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 HLD19; loss of mechanosensitive ion channel activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 462 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 807 The length of the canonical sequence.
Location on the sequence: help ILSTMDKFNVTKPIHALNNP I ISQFFPTLLLWSFSALLPSI 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                         ILSTMDKFNVTKPIHALNNPIISQFFPTLLLWSFSALLPSI

Mouse                         IMSTMDKFNVTKPIHALNNPVISQFFPTLLLWSFSALLPSI

Goat                          ILSTMDKFNVTKPIHALNDPIISQFFPTLLLWSFSALLPTI

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 – 807 CSC1-like protein 1
Transmembrane 462 – 482 Helical
Glycosylation 450 – 450 N-linked (GlcNAc...) asparagine
Helix 461 – 463



Literature citations
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
Yan H.; Helman G.; Murthy S.E.; Ji H.; Crawford J.; Kubisiak T.; Bent S.J.; Xiao J.; Taft R.J.; Coombs A.; Wu Y.; Pop A.; Li D.; de Vries L.S.; Jiang Y.; Salomons G.S.; van der Knaap M.S.; Patapoutian A.; Simons C.; Burmeister M.; Wang J.; Wolf N.I.;
Am. J. Hum. Genet. 105:996-1004(2019)
Cited for: VARIANTS HLD19 GLU-168; ASN-462 AND SER-567; CHARACTERIZATION OF VARIANTS HLD19 GLU-168; ASN-462 AND SER-567; FUNCTION;
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.