Table 1.

Amino acid substitutionsa

Amino Acid ChangeNucleotide ChangeSIFTPolyPhenCellular LocalizationAltered F-Actin BindingAllele Frequencies in ControlsCo-Segregation with Phenotype in PedigreeDisease Causing or Contributing
A6TC16GToleratedBenignNDNDNDNoNo
W59RC175TAffects functionProbably damagingAbnormalYes0YesYes
I149deldel(445-447)NANAAbnormalYes0YesYes
K255EbA763GAffects functionBenignAbnormalYes0YesYes
T259IbC776TAffects functionPossibly damagingAbnormalYes0YesYes
S262PbT784CAffects functionPossibly damagingAbnormalYes0YesYes
R310QG929AToleratedPossibly damagingNormalNo0.0074 (8/1084) controls 0.016 (3/192) sporadic FSGSNoProbably not
Q348RA1046GAffects functionPossibly damagingNormalNo0NAProbably not
A427TC1292GToleratedBenignNDNDNDNoNo
V801MG2401AAffects functionBenignAbnormalNo0.005 (5/961)YesProbably not
R837QG2511AAffects functionBenignNormalNo0NoProbably not
  • a ND, not done; NA, not available.

  • b Previously reported (1).