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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q7Z4L5: Variant p.Ile1208Ser

Tetratricopeptide repeat protein 21B
Gene: TTC21B
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Variant information Variant position: help 1208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Isoleucine (I) to Serine (S) at position 1208 (I1208S, p.Ile1208Ser). 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 hydrophobic (I) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help Found in a patient with Bardet-Biedl syndrome; probably acts as a disease modifier; the patients also carries two mutations in BBS1; functionally null mutation in vitro. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1316 The length of the canonical sequence.
Location on the sequence: help WNAIDAEEFEKSWLLLADIY I QSAKYDMAEDLLKRCLRHNR 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                         WNAIDAEEFEKSWLLLADIYIQSAKYDMAEDLLKRCLRHNR

Mouse                         WNPIEAEDLEKSWLLLADIYIQSAKYDMAEELLKRCLCHNR

Xenopus laevis                WSLADAEDLEKSWLLLADVYIKLGKYDIATELLKRCLLYNK

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 – 1316 Tetratricopeptide repeat protein 21B
Repeat 1197 – 1230 TPR 17
Alternative sequence 483 – 1316 Missing. In isoform 2.
Helix 1193 – 1209



Literature citations
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis E.E.; Zhang Q.; Liu Q.; Diplas B.H.; Davey L.M.; Hartley J.; Stoetzel C.; Szymanska K.; Ramaswami G.; Logan C.V.; Muzny D.M.; Young A.C.; Wheeler D.A.; Cruz P.; Morgan M.; Lewis L.R.; Cherukuri P.; Maskeri B.; Hansen N.F.; Mullikin J.C.; Blakesley R.W.; Bouffard G.G.; Gyapay G.; Rieger S.; Tonshoff B.; Kern I.; Soliman N.A.; Neuhaus T.J.; Swoboda K.J.; Kayserili H.; Gallagher T.E.; Lewis R.A.; Bergmann C.; Otto E.A.; Saunier S.; Scambler P.J.; Beales P.L.; Gleeson J.G.; Maher E.R.; Attie-Bitach T.; Dollfus H.; Johnson C.A.; Green E.D.; Gibbs R.A.; Hildebrandt F.; Pierce E.A.; Katsanis N.;
Nat. Genet. 43:189-196(2011)
Cited for: INVOLVEMENT IN CILIOPATHIES; VARIANTS NPHP12 ARG-150; LEU-209; SER-231; ARG-566 AND CYS-1167; VARIANTS SRTD4 SER-231; TYR-755 AND PRO-795; VARIANTS JBTS11 ASN-591; CYS-867 AND VAL-1186; VARIANTS TYR-60; ARG-66; GLU-157; LEU-222; SER-231; ASN-242; CYS-255; VAL-280; SER-327; CYS-347; GLY-411; ARG-412; GLU-424; CYS-616; VAL-624; ARG-645; THR-724; LEU-753; VAL-844; HIS-867; ARG-869; GLN-939; TRP-939; VAL-1002; VAL-1011; CYS-1035; ASN-1041; ARG-1103; SER-1208; HIS-1284 AND GLY-1311; CHARACTERIZATION OF VARIANTS NPHP12 ARG-150; LEU-209; SER-231; ARG-566 AND CYS-1167; CHARACTERIZATION OF VARIANTS SRTD4 SER-231; TYR-755 AND PRO-795; CHARACTERIZATION OF VARIANTS JBTS11 ASN-591; CYS-867 AND VAL-1186; CHARACTERIZATION OF VARIANTS TYR-60; GLU-157; LEU-222; SER-231; CYS-255; VAL-280; SER-327; CYS-347; GLY-411; LEU-753; VAL-844; HIS-867; ARG-869; GLN-939; TRP-939; VAL-1002; ARG-1103; ASN-1041 AND SER-1208;
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.