UniProtKB/Swiss-Prot O60494: Variant p.Tyr1032His

Cubilin
Gene: CUBN
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Variant information Variant position:

1032 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 Tyrosine (Y) to Histidine (H) at position 1032 (Y1032H, p.Tyr1032His). 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 (H) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1801227 [ dbSNP | Ensembl ]

Sequence information Variant position:

1032 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3623 The length of the canonical sequence.
Location on the sequence:

SLTSSGNSLMLVFVTDSDLA Y EGFLINYEAISAATACLQDY 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                         SLTSSGNSLMLVFVTDSDLAYEGFLINYEAISAATACLQDY

                              SLTSSTNSLKLIFVADSDLAYEGFLINYEATDASSACMEDY

Mouse                         SLTSSSHSIKLIFVSDSALAHEGFSINYEAINASSVCLYDY

Rat                           SLTSNSNSIKLIFVSDSALAHEGFSINYEAIDASSVCLYDY

Pig                           SLTSNTNSLKLIFVADADLAYEGFVINYEATDASAGNTTAL

Caenorhabditis elegans        SIYSTTNTMAVVFVSDRSVAGPGWNAKFEAVSRKTTCDFTL

Drosophila                    DLLSHSRQLVLKFVSDYSESDGGFDLTY-TFEDRAKCGGHI

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	36 – 3623	Cubilin
Domain	932 – 1042	CUB 5
Binding site	1027 – 1027
Binding site	1029 – 1029
Binding site	1030 – 1030

Literature citations
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1.
Aminoff M.; Carter J.E.; Chadwick R.B.; Johnson C.; Graesbeck R.; Abdelaal M.A.; Broch H.; Jenner L.B.; Verroust P.J.; Moestrup S.K.; de la Chapelle A.; Krahe R.;
Nat. Genet. 21:309-313(1999)
Cited for: INVOLVEMENT IN IGS1; VARIANT IGS1 LEU-1297; VARIANTS ILE-124; SER-253; THR-389; HIS-1032; TYR-1545; SER-1559; ILE-1769; PHE-2153; ARG-2575; ARG-2691; ILE-2879; VAL-2984; GLY-3002; ILE-3422 AND LYS-3552;

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.