Table 5.
Neurological phenotypes for the top human CCR5 missense variants from Geno2MP.
| Variant | Het | Hom | Phenotype |
|---|---|---|---|
| L55Q | 7 | 1 | Abnormality of brain morphology |
| L55Q | 4 | 0 | Epileptic encephalopathy |
| L55Q | 4 | 0 | Abnormality of nervous system physiology |
| L55Q | 3 | 0 | Neurodevelopmental abnormality |
| R223Q | 3 | 0 | Intellectual disability |
| L55Q | 2 | 0 | Microcephaly |
| L55Q | 2 | 0 | Dystonia |
| L55Q | 2 | 0 | Fatigable weakness |
| R223Q | 2 | 0 | Agenesis of corpus callosum |
| R223Q | 2 | 0 | Abnormality of brain morphology |
| R223Q | 2 | 0 | Cerebral cortical atrophy |
| R223Q | 2 | 0 | Abnormality of nervous system morphology |
| A73V | 2 | 0 | Epileptic encephalopathy |
| S63C | 2 | 0 | Intellectual disability |
| L55Q | 1 | 0 | Autism, Intellectual disability |
| L55Q | 1 | 0 | Spastic paraplegia |
| L55Q | 1 | 0 | Abnormality of hindbrain morphology |
| L55Q | 1 | 0 | Seizures |
| L55Q | 1 | 0 | Abnormality of nervous system morphology |
| L55Q | 1 | 0 | Intellectual disability |
| L55Q | 1 | 0 | Global developmental delay, Autism |
| L55Q | 1 | 0 | Global developmental delay |
| L55Q | 1 | 0 | Abnormality of the nervous system |
| R223Q | 1 | 0 | Behavioral abnormality |
| R223Q | 1 | 0 | Seizures |
| R223Q | 1 | 0 | Neurodegeneration |
| R223Q | 1 | 0 | Abnormality of hindbrain morphology |
| R223Q | 1 | 0 | Seizures |
| R223Q | 1 | 0 | Epileptic encephalopathy |
| R223Q | 1 | 0 | Abnormality of nervous system physiology |
| R223Q | 1 | 0 | Intellectual disability |
| R223Q | 1 | 0 | Intellectual disability |
| R223Q | 1 | 0 | Global developmental delay |
| A73V | 1 | 0 | Intellectual disability |
| A73V | 1 | 0 | Agenesis of corpus callosum |
| A73V | 1 | 0 | Abnormality of hindbrain morphology |
| A73V | 1 | 0 | Abnormality of brain morphology |
| A73V | 1 | 0 | Intellectual disability |
| V131F | 1 | 0 | Abnormality of hindbrain morphology |
| V131F | 1 | 0 | Abnormality of brain morphology |
| V131F | 1 | 0 | Fatigable weakness |
| V131F | 1 | 0 | Abnormality of nervous system physiology |
| S63C | 1 | 0 | Spastic paraplegia |
| S63C | 1 | 0 | Microcephaly |
| S63C | 1 | 0 | Abnormality of brain morphology |
| S63C | 1 | 0 | Seizures |
| S63C | 1 | 0 | Abnormality of movement |
The Het is the number of heterozygous individuals with the variant and the annotated phenotype and Hom are homozygous individuals with phenotype.