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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96FM1: Variant p.Asp305Gly

Post-GPI attachment to proteins factor 3
Gene: PGAP3
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Variant information Variant position: help 305 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 Glycine (G) at position 305 (D305G, p.Asp305Gly). 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 glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In HPMRS4; results in partial functional impairment; the mutant does not localize to the Golgi apparatus but is retained in the endoplasmic reticulum. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 305 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 320 The length of the canonical sequence.
Location on the sequence: help AIWHISTIPVHVLFFSFLED D SLYLLKESEDKFKLD 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                         AIWHISTIPVHVLFFSFLEDDSLYLLKES--EDKFKLD-

Mouse                         AIWHISTIPVHTLFFRFLEDDSLYLLKES--GAMFK

Bovine                        AIWHISTIPVHVLFFSFLEDDSLYLLKES--EAKVK

Xenopus laevis                ALWHFSTIPLHFLFYSFLRDDSLYLLKVNHDDDIPK

Xenopus tropicalis            ALWHFSTVPLHFLFYSFLKDDSLYLLKINH-DDIPK

Zebrafish                     AVWHLSTVPVHFLFYSFLIDDSLHLLNTE--KPGVK

Drosophila                    ALWHLATIPLASLYYECVE----ILLYSNIATCVCI
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 21 – 320 Post-GPI attachment to proteins factor 3
Topological domain 300 – 320 Cytoplasmic



Literature citations
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Howard M.F.; Murakami Y.; Pagnamenta A.T.; Daumer-Haas C.; Fischer B.; Hecht J.; Keays D.A.; Knight S.J.; Kolsch U.; Kruger U.; Leiz S.; Maeda Y.; Mitchell D.; Mundlos S.; Phillips J.A.; Robinson P.N.; Kini U.; Taylor J.C.; Horn D.; Kinoshita T.; Krawitz P.M.;
Am. J. Hum. Genet. 94:278-287(2014)
Cited for: VARIANTS HPMRS4 ASP-92; ARG-105 AND GLY-305; CHARACTERIZATION OF VARIANTS HPMRS4 ASP-92; ARG-105 AND GLY-305;
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.