UniProtKB/Swiss-Prot Q7Z4L5: Variant p.Lys157Glu

Tetratricopeptide repeat protein 21B
Gene: TTC21B
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Variant information Variant position:

157 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Lysine (K) to Glutamate (E) at position 157 (K157E, p.Lys157Glu). 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 (K) to medium size and acidic (E) 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
Variant description:

Found in a patient with Bardet-Biedl syndrome; probably acts as a disease modifier; the patient also carries a frameshift mutation and variant M-501 in BBS12; hypomorphic variant in vitro. Any additional useful information about the variant.

Sequence information Variant position:

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

1316 The length of the canonical sequence.
Location on the sequence:

ISDGSKQGHVLKAWLDITRG K EPYTKKALKYFEEGLQDGND 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                         ISDGSKQGHVLKAWLDITRGKEPYTKKALKYFEEGLQDGND

Mouse                         MPHDSNEGPILKAWLDITRGKEPYAKKALRYFEEGLQDGND

Xenopus laevis                ISNRSREGLVLRGWLDLSSEKESTVNKSIRYFEEGIQDNKD

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 – 1316	Tetratricopeptide repeat protein 21B
Repeat	145 – 178	TPR 2

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.