UniProtKB/Swiss-Prot O60494: Variant p.Ala2914Val

Cubilin
Gene: CUBN
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Variant information Variant position:

2914 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 Alanine (A) to Valine (V) at position 2914 (A2914V, p.Ala2914Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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
Variant description:

In a breast cancer sample; somatic mutation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs45551835 [ dbSNP | Ensembl ]

Sequence information Variant position:

2914 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:

PSNTFTAVFQSQEAPAQGFS A SFVSRCGSNFTGPSGYIISP 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                         PSNTFTAVFQSQ-EAPAQGFSASFVSRCGSNF--TGPSGYIISP

                              PRNVFIAVFQSQ-ETPAQGFSASFVSRCGGNF--TNPSGYI

Mouse                         LGNIFTAVFQSE-EMPAQGFSASFISRCGRTF--NSSTGDI

Rat                           SGNIFTAVFQSE-EMAAQGFSASFISRCGRTF--NTSPGDI

Pig                           PRNAFTAVFQSQ-ETPAQGFSASFLSRCGRNF--TNPSGYI

Caenorhabditis elegans        ESNRVRLNFTTDSQTTARGFRVNWEAECGAIY--RLNHGVI

Drosophila                    TSPYLRLIFRSDGDVVADGFLAKFERNCGGLLYADSTEQEL

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	2805 – 2919	CUB 21
Glycosylation	2923 – 2923	N-linked (GlcNAc...) asparagine

Literature citations
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M.; Boyer O.; Servais A.; Li Y.; Villoing-Gaude L.; Tete M.J.; Cambier A.; Hogan J.; Baudouin V.; Krid S.; Bensman A.; Lammens F.; Louillet F.; Ranchin B.; Vigneau C.; Bouteau I.; Isnard-Bagnis C.; Mache C.J.; Schaefer T.; Pape L.; Goedel M.; Huber T.B.; Benz M.; Klaus G.; Hansen M.; Latta K.; Gribouval O.; Moriniere V.; Tournant C.; Grohmann M.; Kuhn E.; Wagner T.; Bole-Feysot C.; Jabot-Hanin F.; Nitschke P.; Ahluwalia T.S.; Koettgen A.; Andersen C.B.F.; Bergmann C.; Antignac C.; Simons M.;
J. Clin. Invest. 130:335-344(2020)
Cited for: INVOLVEMENT IN PROCHOB; VARIANTS PROCHOB MET-55; 1158-TRP--SER-3623 DEL; HIS-1303; 1487-ARG--SER-3623 DEL; 1810-ARG--SER-3623 DEL; TYR-1854; VAL-1928; TYR-1947; 2030-ARG--SER-3623 DEL; ARG-2261; TRP-2599; LEU-2822; 2831-CYS--SER-3623 DEL; 2833-TRP--SER-3623 DEL; 2903-GLN--SER-3623 DEL; SER-3018; ARG-3027; ARG-3308; 3317-GLN--SER-3623 DEL; CYS-3366; TYR-3492; ASP-3520; HIS-3609 AND 3618-ARG--SER-3623 DEL; VARIANTS VAL-1690; ASP-2157; VAL-2914 AND VAL-2984; The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-786; VAL-2252; VAL-2914 AND VAL-3189;

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.