Table 2.
Diseases associated with mutations in genes encoding chaperonins and in genes phylogenetically related to the CCT familya
| GENE/Name/HGNC/Gene ID/UniProtKB/Swiss-Prot/Accession number | Chaperonopathies. Mutations |
|---|---|
| CCT2/1615/10576/P78371NM_006431 | OMIM:605139. Leber congenital amaurosis (LCA) Mutations T400P and R516H |
| CCT4/1617/10575/P50991/NM_006430 | OMIM:*605142. Distal hereditary sensory neuropathy (mutilated foot) in rat. cys450-to-tyr (C450Y) |
| CCT5/1618/22948/P48643/NM_012073.3 | OMIM: *610150; #256840. Distal hereditary sensory-motor neuropathy. his147-to-arg (H147R) |
| MKKS/7108/8195/Q9NPJ1/NM_018848.2 and NM_170784.1 | OMIM: 04896 gene; 209900 phenotype; 236700 phenotype; McKusick-Kaufman syndrome; MKKS hydrometrocolpos syndrome; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; HMCS Kaufman-Mckusick syndrome. Y37C (604896.0003), T57A (604896.0010), and C499S (604896.0013): increased MKKS degradation and reduced solubility relative to wild-type MKKS, and the mutant H84Y (604896.0001). R155L, A242S, and G345E mutations: increased MKKS degradation only. |
| BBS10/26291/79738/Q8TAM1/NM_024685.3 | OMIM: 610148 gene; 209900 phenotype; Bardet-Biedl syndrome (relationship to Laurence-Moon syndrome). (BBS; 209900) a 1-bp insertion at residue 91 leading to premature termination 4 codons later (C91fsX95). VAL11GLY; ARG34PRO; SER303 FS; SER311ALA. |
| BBS12/26648/166379/Q6ZW61/NM_152618.2 | OMIM: 610683 Bardet-Biedl syndrome 12. ALA289PRO; ARG355TER; 3-BP DEL, 335TAG; 2-BP DEL, 1114TT; 2-BP DEL, 1483GA; F372fsX373 |
| HSPD1/5261/3329/P10809/NM_199440.1 and NP_955472.1 | OMIM: 605280 Spastic Paraplegia 13, autosomal dominant; SPG13, Val98Ile (V98I) Gln461Glu (Q461E) |
| OMIM: 612233 Leukodystrophy, Hypomyelinating, 4; HLD4; Mitochondrial HSP60 Chaperonopathy; MitCHAP60 Disease Asp29Gly (D29G) | |
| HSPE1/5269/3336/61604.2/NM_002157.2 and NP_002148.1 | OMIM: *600141 Neurological and developmental disorder characterized by infantile spasms. Mutation Leu73Phe (L73F) |
aReproduced with permission from the ref. 59, published under the CC-BY license