UniProtKB/Swiss-Prot O60494: Variant p.Gly2691Arg

Cubilin
Gene: CUBN
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Variant information Variant position:

2691 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 Glycine (G) to Arginine (R) at position 2691 (G2691R, p.Gly2691Arg). 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 glycine (G) to large size and basic (R) 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 rs1801237 [ dbSNP | Ensembl ]

Sequence information Variant position:

2691 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:

TNERVEHIGFHAKYSFTDCG G IQIGDSGVITSPNYPNAYDS 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                         TNERV-EHIGFHAKYSFTDCGGIQI---GDSGVITSPNYPNA--YDS

                              TNEHV-EHVGFHAEYSFTDCGGIQL---GESGVIASPNYPA

Mouse                         SNERV-EYTGFYVEYSFTNCGGIQT---GENGVISSPNYPN

Rat                           SNERV-EYTGFYIEYSFTDCGGIRT---GDNGVISSPNYPN

Pig                           TNERV-EHIGFRARYSFTDCGGIQI---GDHGVISSPNYPA

Caenorhabditis elegans        QLFRDQEGQQFNLTIEFQKCGGVIS--SPNTGDITSPNFGS

Drosophila                    ASARN-AMTNLVLSYSTQSCGGVIILEPGDNMTVHQPSGMV

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	2689 – 2801	CUB 20
Disulfide bond	2689 – 2715

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.