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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TF17: Variant p.Arg1109Pro

SH3 domain and tetratricopeptide repeat-containing protein 2
Gene: SH3TC2
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Variant information Variant position: help 1109 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 Arginine (R) to Proline (P) at position 1109 (R1109P, p.Arg1109Pro). 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 large size and basic (R) to medium size and hydrophobic (P) 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 In CMT4C; fails to localize to the recycling endosome and has a non-specific cytosolic distribution. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1288 The length of the canonical sequence.
Location on the sequence: help EAGDVFFNGTRHRHHAVEYY R AGAVPLARRLKAVRTELRIF 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                         EAGDVFFNGTRHRHHAVEYYRAGAVPLARRLKAVRTELRIF

Mouse                         EAGDVFFNGTRHRHRAVEYYRAGAVPLARRMKALRTELRIF
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 2 – 1288 SH3 domain and tetratricopeptide repeat-containing protein 2
Repeat 1084 – 1118 TPR 5
Alternative sequence 1 – 1138 Missing. In isoform 2 and isoform 3.
Alternative sequence 1050 – 1288 Missing. In isoform 4.



Literature citations
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.
Roberts R.C.; Peden A.A.; Buss F.; Bright N.A.; Latouche M.; Reilly M.M.; Kendrick-Jones J.; Luzio J.P.;
Hum. Mol. Genet. 19:1009-1018(2010)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH RAB11A; MUTAGENESIS OF LEU-659 AND 1201-GLN--LEU-1288; CHARACTERIZATION OF VARIANTS GLN-529; LYS-657; CYS-658; PRO-661; SER-881 AND PRO-1109;
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
Azzedine H.; Ravise N.; Verny C.; Gabreels-Festen A.; Lammens M.; Grid D.; Vallat J.M.; Durosier G.; Senderek J.; Nouioua S.; Hamadouche T.; Bouhouche A.; Guilbot A.; Stendel C.; Ruberg M.; Brice A.; Birouk N.; Dubourg O.; Tazir M.; LeGuern E.;
Neurology 67:602-606(2006)
Cited for: VARIANTS CMT4C 307-TRP--LEU-1288 DEL; CYS-658; PRO-661; SER-881; 904-ARG--LEU-1288 DEL; 954-ARG--LEU-1288 DEL AND PRO-1109; VARIANT SER-468; INVOLVEMENT IN CMT4C;
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.