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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6MZM0: Variant p.Ala355Thr

Ferroxidase HEPHL1
Gene: HEPHL1
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Variant information Variant position: help 355 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 Alanine (A) to Threonine (T) at position 355 (A355T, p.Ala355Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 HJDD; due to a nucleotide substitution that affects a canonical splice site; patient cells contain normally spliced transcripts corresponding to protein variant T-355 but also transcripts lacking exon 5 and corresponding to protein variant 271-L--A-355 del. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 355 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1159 The length of the canonical sequence.
Location on the sequence: help MIAENPGKWMITCQVSDHLQ A GMLGQYNVDNCKSDIFYPKM 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                         MIAENPGKWMITCQVSDHLQAGMLGQYNVDNCKSDIFYPKM

Mouse                         MIVENPGKWMITCQVSDHLQAGMLGQYSVGNCRGNAPHPKV
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 25 – 1159 Ferroxidase HEPHL1
Topological domain 25 – 1114 Extracellular
Domain 218 – 366 Plastocyanin-like 2
Binding site 347 – 347 type 1 copper site
Binding site 352 – 352 type 1 copper site
Disulfide bond 285 – 366



Literature citations
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
Sharma P.; Reichert M.; Lu Y.; Markello T.C.; Adams D.R.; Steinbach P.J.; Fuqua B.K.; Parisi X.; Kaler S.G.; Vulpe C.D.; Anderson G.J.; Gahl W.A.; Malicdan M.C.V.;
PLoS Genet. 15:E1008143-E1008143(2019)
Cited for: FUNCTION; CATALYTIC ACTIVITY; COFACTOR; GLYCOSYLATION AT ASN-161; ASN-407 AND ASN-772; INVOLVEMENT IN HJDD; VARIANTS HJDD 271-LEU--ALA-355 DEL; THR-355 AND THR-1059; CHARACTERIZATION OF VARIANTS HJDD 271-LEU--ALA-355 DEL AND THR-1059;
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.