UniProtKB/Swiss-Prot Q96RK4: Variant p.Lys46Arg

BBSome complex member BBS4
Gene: BBS4
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Variant information Variant position:

46 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 Lysine (K) to Arginine (R) at position 46 (K46R, p.Lys46Arg). 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:

Similar physico-chemical property. Both residues are large size and basic. 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 rs75295839 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

APEFPILEKQNWLIHLHYIR K DYEACKAVIKEQLQETQGLC 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                         APEFP----ILE--KQNWLIHLHYIRKDYEACKAVIKEQLQETQGLC

Mouse                         APDFP----IVE--KQNWLIHLHYIRKDYEACKAVIKEQLQ

Bovine                        APEFP----ILE--KQNWLIHLYYIQKDYEACKAVIKEQLQ

Xenopus tropicalis            VPELP----ILE--RRNWLIHLHYVRKDYESCKAVIKEQLQ

Caenorhabditis elegans        APSAPKRVEILDCNSLNGLMYHYFAQGDYIECKSIIGEIQS

Drosophila                    APKMP----SDA--NIDWLLHIYFTRREFTRCRRLIERELN

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 – 519	BBSome complex member BBS4
Region	1 – 66	Required for localization to centrosomes
Alternative sequence	1 – 172	Missing. In isoform 3.

Literature citations
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H.; Martinovic J.; Gubler M.-C.; Sirot Y.; Clech L.; Ozilou C.; Auge J.; Brahimi N.; Etchevers H.; Detrait E.; Esculpavit C.; Audollent S.; Goudefroye G.; Gonzales M.; Tantau J.; Loget P.; Joubert M.; Gaillard D.; Jeanne-Pasquier C.; Delezoide A.-L.; Peter M.-O.; Plessis G.; Simon-Bouy B.; Dollfus H.; Le Merrer M.; Munnich A.; Encha-Razavi F.; Vekemans M.; Attie-Bitach T.;
Am. J. Hum. Genet. 76:493-504(2005)
Cited for: VARIANT BBS4 GLY-368; VARIANTS ARG-46 AND THR-354; BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C.; Billingsley G.; Duncan J.L.; Bin J.; Theal R.; Vincent A.; Fieggen K.J.; Gerth C.; Noordeh N.; Traboulsi E.I.; Fishman G.A.; Chitayat D.; Knueppel T.; Millan J.M.; Munier F.L.; Kennedy D.; Jacobson S.G.; Innes A.M.; Mitchell G.A.; Boycott K.; Heon E.;
Hum. Mutat. 32:610-619(2011)
Cited for: VARIANTS ARG-46; LYS-61; ASP-412 AND LYS-488;

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.