UniProtKB/Swiss-Prot Q7Z4J2: Variant p.His195Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Histidine (H) to Arginine (R) at position 195 (H195R, p.His195Arg). 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 medium size and polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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
Polymorphism: The stop codon in position 277 is polymorphic and is replaced, though at very low frequency, by a Lys codon allowing the translation of a longer protein. It is not clear if the common, shorter variant shown here is functional or not. Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs35762223 [ dbSNP | Ensembl ]

Sequence information

Variant position: 195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 276 The length of the canonical sequence.
Location on the sequence: NQVFQNEFGVETLGPLVAQL H AWWYFRNTKNFPYERRPTSA 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.
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	1 – 276	Putative glycosyltransferase 6 domain-containing protein 1
Topological domain	24 – 276	Lumenal
Binding site	195 – 198

Literature citations

Human pseudogenes of the ABO family show a complex evolutionary dynamics and loss of function.
Casals F.; Ferrer-Admetlla A.; Sikora M.; Ramirez-Soriano A.; Marques-Bonet T.; Despiau S.; Roubinet F.; Calafell F.; Bertranpetit J.; Blancher A.;
Glycobiology 19:583-591(2009)
Cited for: VARIANTS ARG-195 AND SER-219; CAUTION;