To improve security and privacy, we are moving our web pages and services from HTTP to HTTPS.
To give users of web services time to transition to HTTPS, we will support separate HTTP and HTTPS services until the end of 2017.
From January 2018 most HTTP traffic will be automatically redirected to HTTPS. [more...]
View this page in https

UniProtKB/Swiss-Prot Q9UPM9: Variant p.Arg156Gln

B9 domain-containing protein 1
Gene: B9D1
Chromosomal location: 17p11.2
Variant information

Variant position:  156
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 156 (R156Q, p.Arg156Gln).
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 large size and basic (R) to medium size and polar (Q)
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

Involvement in disease:  Joubert syndrome 27 (JBTS27) [MIM:617120]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS27 inheritance is autosomal recessive. {ECO:0000269|PubMed:24886560}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In JBTS27.
Any additional useful information about the variant.



Sequence information

Variant position:  156
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  204
The length of the canonical sequence.

Location on the sequence:   WFMGRRPEYTDPKVVAQGEG  R EVTRVRSQGFVTLLFNVVTK
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                         WFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTK

Mouse                         WFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTK

Rat                           WFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTK

Xenopus laevis                WFMGRRPEFTDPKVVAQGEGREVTRVRSQGCVTVSFNVVTK

Xenopus tropicalis            WFMGRRPEFTDPKVVAQGEGREVTRVRSQGCVTVSFNVVTK

Zebrafish                     WLMGRRPEFTDPKVVAQGEGREVTRVRSQGFVTLQFNIVTK

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.

TypePositionsDescription
Chain 1 – 204 B9 domain-containing protein 1
Alternative sequence 136 – 204 WFMGRRPEYTDPKVVAQGEGREVTRVRSQGFVTLLFNVVTKDMRKLGYDTGPSDTQGVLGPSPPQSFPQ -> LCLVASSDLQAAPPTEDK. In isoform 2.


Literature citations

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Romani M.; Micalizzi A.; Kraoua I.; Dotti M.T.; Cavallin M.; Sztriha L.; Ruta R.; Mancini F.; Mazza T.; Castellana S.; Hanene B.; Carluccio M.A.; Darra F.; Mate A.; Zimmermann A.; Gouider-Khouja N.; Valente E.M.;
Orphanet J. Rare Dis. 9:72-72(2014)
Cited for: INVOLVEMENT IN JBTS27; VARIANTS JBTS27 CYS-32; GLN-156 AND VAL-174 DEL;

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.