UniProtKB/Swiss-Prot Q9BXC9: Variant p.Ile123Val

Bardet-Biedl syndrome 2 protein
Gene: BBS2
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Variant information Variant position:

123 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 Valine (V) at position 123 (I123V, p.Ile123Val). 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 medium size and hydrophobic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs11373 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YDVYNNSDLFYREVADGANA I VLGTLGDISSPLAIIGGNCA 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                         YDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCA

Mouse                         YDIYNNSDLFYREVSDGANAIVLGTLGDIAPPLAIIGGNCA

Rat                           YDIYNNSDLFYREVADGANALVLGTLGDIAPPLAIIGGNCA

Zebrafish                     YDVHDNTDVFYKEVTDGANAIVLGKLGDIQSPLAIIGGNCA

Caenorhabditis elegans        YDVHNNLTVFRNDVPDGVSCFVYGKLGELDEAI-YCGGNCC

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 – 721	Bardet-Biedl syndrome 2 protein

Literature citations
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Nishimura D.Y.; Searby C.C.; Carmi R.; Elbedour K.; Van Maldergem L.; Fulton A.B.; Lam B.L.; Powell B.R.; Swiderski R.E.; Bugge K.E.; Haider N.B.; Kwitek-Black A.E.; Ying L.; Duhl D.M.; Gorman S.M.; Heon E.; Iannaccone A.; Bonneau D.; Biesecker L.G.; Jacobson S.G.; Stone E.M.; Sheffield V.C.;
Hum. Mol. Genet. 10:865-874(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT BBS2 GLY-75; VARIANTS ASN-70 AND VAL-123; 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 BBS2 PRO-23; VARIANT VAL-123; Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H.; Stoetzel C.; Laurier V.; Caron S.; Sigaudy S.; Sarda P.; Hamel C.; Martin-Coignard D.; Gilles M.; Leheup B.; Holder M.; Kaplan J.; Bitoun P.; Lacombe D.; Verloes A.; Bonneau D.; Perrin-Schmitt F.; Brandt C.; Besancon A.-F.; Mandel J.-L.; Cossee M.; Dollfus H.;
Eur. J. Hum. Genet. 13:607-616(2005)
Cited for: VARIANT VAL-123;

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.