UniProtKB/Swiss-Prot Q96RY7: Variant p.Glu664Lys

Intraflagellar transport protein 140 homolog
Gene: IFT140
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Variant information Variant position:

664 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 Glutamate (E) to Lysine (K) at position 664 (E664K, p.Glu664Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 SRTD9 and RP80; uncertain significance; partial to complete loss of basal body localization and increase of cytoplasmic localization. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs387907192 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1462 The length of the canonical sequence.
Location on the sequence:

KNYVPVNHFWDQSEPRLFVC E AVQETPRSQPQSANGQPQDG 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                         KNYVPVNHFWDQSEPRLFVCEAVQETPRSQPQSANGQPQ-DG

Mouse                         AGYTPVNHFWDQSEPRLFVCEALQEAPGAQPQAVDKQPRVE

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 – 1462	Intraflagellar transport protein 140 homolog
Alternative sequence	1 – 806	Missing. In isoform 2.
Beta strand	660 – 666

Literature citations
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Perrault I.; Saunier S.; Hanein S.; Filhol E.; Bizet A.A.; Collins F.; Salih M.A.; Gerber S.; Delphin N.; Bigot K.; Orssaud C.; Silva E.; Baudouin V.; Oud M.M.; Shannon N.; Le Merrer M.; Roche O.; Pietrement C.; Goumid J.; Baumann C.; Bole-Feysot C.; Nitschke P.; Zahrate M.; Beales P.; Arts H.H.; Munnich A.; Kaplan J.; Antignac C.; Cormier-Daire V.; Rozet J.M.;
Am. J. Hum. Genet. 90:864-870(2012)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS SRTD9 ARG-212; MET-233; MET-292; CYS-311; GLU-522; GLN-576 AND LYS-664; CHARACTERIZATION OF VARIANTS SRTD9 ARG-212; CYS-311 AND LYS-664; The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.
Bifari I.N.; Elkhamary S.M.; Bolz H.J.; Khan A.O.;
Br. J. Ophthalmol. 100:829-833(2016)
Cited for: VARIANT RP80 LYS-664; Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S.; Owen N.; Islam F.; Tracey-White D.; Plagnol V.; Holder G.E.; Michaelides M.; Carss K.; Raymond F.L.; Rozet J.M.; Ramsden S.C.; Black G.C.; Perrault I.; Sarkar A.; Moosajee M.; Webster A.R.; Arno G.; Moore A.T.;
Invest. Ophthalmol. Vis. Sci. 57:1053-1062(2016)
Cited for: VARIANTS RP80 TYR-333; THR-341; PRO-440; MET-484 AND PRO-939; VARIANT ARG-777; CHARACTERIZATION RP80 PRO-440; MET-484; LYS-664 AND PRO-939; CHARACTERIZATION OF VARIANT ARG-777; SUBCELLULAR LOCATION;

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.