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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q68CZ1: Variant p.Thr615Pro

Protein fantom
Gene: RPGRIP1L
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Variant information Variant position: help 615 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Threonine (T) to Proline (P) at position 615 (T615P, p.Thr615Pro). 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: help Change from medium size and polar (T) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In JBTS7; affects interaction with NPHP4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 615 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1315 The length of the canonical sequence.
Location on the sequence: help DETIHLERGENLFEIHINKV T FSSEVLQASGDKEPVTFCTY 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DETIHLERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTY

Mouse                         DETIHLERGENLFEIHINKVTFSSEVLRASGDKELVTFCTY

Caenorhabditis elegans        TPRVNTDLSVKLINV------------KPSPSLTSKFFFSL
Sequence annotation in neighborhood: help 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 – 1315 Protein fantom
Domain 577 – 713 C2 1



Literature citations
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M.; Baala L.; Salomon R.; Laclef C.; Vierkotten J.; Tory K.; Golzio C.; Lacoste T.; Besse L.; Ozilou C.; Moutkine I.; Hellman N.E.; Anselme I.; Silbermann F.; Vesque C.; Gerhardt C.; Rattenberry E.; Wolf M.T.F.; Gubler M.C.; Martinovic J.; Encha-Razavi F.; Boddaert N.; Gonzales M.; Macher M.A.; Nivet H.; Champion G.; Bertheleme J.P.; Niaudet P.; McDonald F.; Hildebrandt F.; Johnson C.A.; Vekemans M.; Antignac C.; Ruether U.; Schneider-Maunoury S.; Attie-Bitach T.; Saunier S.;
Nat. Genet. 39:875-881(2007)
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INVOLVEMENT IN MKS5; VARIANTS JBTS7 PRO-615; ILE-677 AND PRO-695; CHARACTERIZATION OF VARIANTS JBTS7 PRO-615; ILE-677 AND PRO-695; Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts H.H.; Doherty D.; van Beersum S.E.C.; Parisi M.A.; Letteboer S.J.F.; Gorden N.T.; Peters T.A.; Maerker T.; Voesenek K.; Kartono A.; Ozyurek H.; Farin F.M.; Kroes H.Y.; Wolfrum U.; Brunner H.G.; Cremers F.P.M.; Glass I.A.; Knoers N.V.A.M.; Roepman R.;
Nat. Genet. 39:882-888(2007)
Cited for: INTERACTION WITH NPHP4; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANT JBTS7 PRO-615; CHARACTERIZATION OF VARIANT JBTS7 PRO-615; Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
Wolf M.T.; Saunier S.; O'Toole J.F.; Wanner N.; Groshong T.; Attanasio M.; Salomon R.; Stallmach T.; Sayer J.A.; Waldherr R.; Griebel M.; Oh J.; Neuhaus T.J.; Josefiak U.; Antignac C.; Otto E.A.; Hildebrandt F.;
Kidney Int. 72:1520-1526(2007)
Cited for: VARIANTS JBTS7 LYS-393; PRO-615 AND ARG-633;
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.