UniProtKB/Swiss-Prot Q9BYV8: Variant p.Arg179His

Centrosomal protein of 41 kDa
Gene: CEP41
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Variant information Variant position:

179 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 Arginine (R) to Histidine (H) at position 179 (R179H, p.Arg179His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Found in a patient with Joubert syndrome; likely pathogenic; digenic inheritance; the patient also carries a truncating mutation in KIF7. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs140259402 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AEPHTKDKPYPDCPFLLLDV R DRDSYQQCHIVGAYSYPIAT 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                         AEP----HTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIAT

Mouse                         EEP----NGKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSY

Rat                           EEP----SGKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSY

Bovine                        TEP----NTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSY

Chicken                       ADT----QAKDTPYPDCPFLLLDVRDRDAYDQCHIVGAYSY

Xenopus tropicalis            KESLQSSSALDKPYEDCPFLLLDVRDRDSYDQCHVVGAKNY

Zebrafish                     LSPVSTSNTTECPYPDCPYLLLDVRDRELYDQCHIVSAYSY

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 – 373	Centrosomal protein of 41 kDa
Domain	169 – 266	Rhodanese
Alternative sequence	55 – 373	Missing. In isoform 3.

Literature citations
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Lee J.E.; Silhavy J.L.; Zaki M.S.; Schroth J.; Bielas S.L.; Marsh S.E.; Olvera J.; Brancati F.; Iannicelli M.; Ikegami K.; Schlossman A.M.; Merriman B.; Attie-Bitach T.; Logan C.V.; Glass I.A.; Cluckey A.; Louie C.M.; Lee J.H.; Raynes H.R.; Rapin I.; Castroviejo I.P.; Setou M.; Barbot C.; Boltshauser E.; Nelson S.F.; Hildebrandt F.; Johnson C.A.; Doherty D.A.; Valente E.M.; Gleeson J.G.;
Nat. Genet. 44:193-199(2012)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN JBTS15; INTERACTION WITH TTLL6; VARIANTS THR-36; GLU-89; HIS-179 AND CYS-360;

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.