UniProtKB/Swiss-Prot Q15051: Variant p.Ile393Asn

IQ calmodulin-binding motif-containing protein 1
Gene: IQCB1
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Variant information Variant position:

393 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 Isoleucine (I) to Asparagine (N) at position 393 (I393N, p.Ile393Asn). 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 (I) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

Impairs interaction with calmodulin. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1141528 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

IVHPGQVEKHYREMEEKSAL I IQKHWRGYRERKNFHQQRQS 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                         IVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQS

Mouse                         IIHPGQVEKYNREMEEKSALTIQKHWRGYRERKNFRQQRPS

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	1 – 598	IQ calmodulin-binding motif-containing protein 1
Domain	387 – 416	IQ 3
Region	287 – 598	Interaction with CEP290, BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9
Alternative sequence	304 – 598	Missing. In isoform 3.

Literature citations
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Otto E.A.; Loeys B.; Khanna H.; Hellemans J.; Sudbrak R.; Fan S.; Muerb U.; O'Toole J.F.; Helou J.; Attanasio M.; Utsch B.; Sayer J.A.; Lillo C.; Jimeno D.; Coucke P.; De Paepe A.; Reinhardt R.; Klages S.; Tsuda M.; Kawakami I.; Kusakabe T.; Omran H.; Imm A.; Tippens M.; Raymond P.A.; Hill J.; Beales P.; He S.; Kispert A.; Margolis B.; Williams D.S.; Swaroop A.; Hildebrandt F.;
Nat. Genet. 37:282-288(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; INTERACTION WITH CALMODULIN; INVOLVEMENT IN SLSN5; VARIANT ASN-393; Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.
Barbelanne M.; Song J.; Ahmadzai M.; Tsang W.Y.;
Hum. Mol. Genet. 22:2482-2494(2013)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH CEP290 AND CALMODULIN; MUTAGENESIS OF ALA-549; CHARACTERIZATION OF VARIANT ASN-393; POSSIBLE INVOLVEMENT IN LCA10;

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.