UniProtKB/Swiss-Prot O60494: Variant p.Leu2261Arg

Cubilin
Gene: CUBN
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Variant information Variant position:

2261 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 Leucine (L) to Arginine (R) at position 2261 (L2261R, p.Leu2261Arg). 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 hydrophobic (L) 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
Variant description:

In PROCHOB; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs779959064 [ dbSNP | Ensembl ]

Sequence information Variant position:

2261 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:

YPPHADCIWILAAPPETRIQ L QFEDRFDIEVTPNCTSNYLE 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                         YPPHADCIWILAAPPETRIQLQFE-DRFDI----EVTPNCT-SNYLE

                              YPQHADCNWLIAAPPGKLIRVQFE-DQFNI----EETPNCV

Mouse                         YPQHAECIWILEAPSGRSIQLQFE-DQFNI----EETPNCS

Rat                           YPQHAECIWILEAPPGRSIQLQFE-DQFNI----EDTPNCS

Pig                           YPQHADCIWVIAAPSGRPIRLEFE-DQFSI----EITPNCT

Caenorhabditis elegans        IPNSVECEYVMAAPNGHRLMLTFDSENFDI---DGNQKNCD

Drosophila                    PHPHSECIWIVEAPPEHRIMLHFQ-GAFDMLDATGEPEECQ

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	2217 – 2334	CUB 16
Glycosylation	2274 – 2274	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;

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.