UniProtKB/Swiss-Prot Q8NBJ7: Variant p.Tyr228Cys

Inactive C-alpha-formylglycine-generating enzyme 2
Gene: SUMF2
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Variant information Variant position:

228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Tyrosine (Y) to Cysteine (C) at position 228 (Y228C, p.Tyr228Cys). 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 large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Found in a consanguineous family with intellectual disability; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs778487055 [ dbSNP | Ensembl ]

Sequence information Variant position:

228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

301 The length of the canonical sequence.
Location on the sequence:

DGFHGVSPVNAFPAQNNYGL Y DLLGNVWEWTASPYQAAEQD 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DGFHGVSPVNAFPAQNNYGLYDLLGNVWEWTASPYQAAEQD

Mouse                         DGFHGLSPVNAFPPQNNYGLYDLMGNVWEWTASTYQPAGQD

Bovine                        DGFHGVSPVNAFPPQNDYGLYDLVGNVWEWTASQYQAADQD

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	26 – 301	Inactive C-alpha-formylglycine-generating enzyme 2
Binding site	208 – 208
Binding site	210 – 210
Binding site	229 – 229
Binding site	232 – 232
Binding site	234 – 234
Binding site	236 – 236
Disulfide bond	156 – 290
Alternative sequence	114 – 301	SVLWWLPVEKAFWRQPAGPGSGIRERLEHPVLHVSWNDARAYCAWRGKRLPTEEEWEFAARGGLKGQVYPWGNWFQPNRTNLWQGKFPKGDKAEDGFHGVSPVNAFPAQNNYGLYDLLGNVWEWTASPYQAAEQDMRVLRGASWIDTADGSANHRARVTTRMGNTPDSASDNLGFRCAADAGRPPGEL -> VKFTHGGTGSSQTAPTCGRESSPRETKLRMASMESPQMLSPPRTTTGSMTSWGTCGSGQHHRTRLLSRTCASSGGHPGSTQLMALPITGPGSPPGWATLQIQPQTTSVSAVLQTQAGRQGSCKQPGGDKEKSLLGSLSFPGHVANSAIPSSRASASGKNFPFPVSHPSVAGASHQGRRGLSLLCFGEGAQCVLTMAGGQVFLLEAKYY. In isoform 4.
Alternative sequence	227 – 301	LYDLLGNVWEWTASPYQAAEQDMRVLRGASWIDTADGSANHRARVTTRMGNTPDSASDNLGFRCAADAGRPPGEL -> WATLQIQPQTTSVSAVLQTQAGRQGSCKQPGGDKEKSLLGSLSFPGHVANSAIPSSRASASGKNFPFPVSHPSVAGASHQGRRGLSLLCFGEGAQCVLTMAGGQVFLLEAKYY. In isoform 3.

Literature citations
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R.; Vasli N.; Mikhailov A.; Rafiq M.A.; Mittal K.; Windpassinger C.; Sheikh T.I.; Noor A.; Mahmood H.; Downey S.; Johnson M.; Vleuten K.; Bell L.; Ilyas M.; Khan F.S.; Khan V.; Moradi M.; Ayaz M.; Naeem F.; Heidari A.; Ahmed I.; Ghadami S.; Agha Z.; Zeinali S.; Qamar R.; Mozhdehipanah H.; John P.; Mir A.; Ansar M.; French L.; Ayub M.; Vincent J.B.;
Mol. Psychiatry 23:973-984(2018)
Cited for: VARIANT CYS-228;

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.