Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16424 | 49495;49496;49497 | chr2:178614127;178614126;178614125 | chr2:179478854;179478853;179478852 |
| N2AB | 14783 | 44572;44573;44574 | chr2:178614127;178614126;178614125 | chr2:179478854;179478853;179478852 |
| N2A | 13856 | 41791;41792;41793 | chr2:178614127;178614126;178614125 | chr2:179478854;179478853;179478852 |
| N2B | 7359 | 22300;22301;22302 | chr2:178614127;178614126;178614125 | chr2:179478854;179478853;179478852 |
| Novex-1 | 7484 | 22675;22676;22677 | chr2:178614127;178614126;178614125 | chr2:179478854;179478853;179478852 |
| Novex-2 | 7551 | 22876;22877;22878 | chr2:178614127;178614126;178614125 | chr2:179478854;179478853;179478852 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.997 | D | 0.662 | 0.453 | 0.577502390439 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9706 | likely_pathogenic | 0.9503 | pathogenic | -1.73 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| R/C | 0.5809 | likely_pathogenic | 0.4794 | ambiguous | -1.693 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| R/D | 0.9975 | likely_pathogenic | 0.9957 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/E | 0.9523 | likely_pathogenic | 0.9288 | pathogenic | -0.859 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| R/F | 0.9863 | likely_pathogenic | 0.9763 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| R/G | 0.9725 | likely_pathogenic | 0.951 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.796420013 | None | None | N |
| R/H | 0.4908 | ambiguous | 0.4041 | ambiguous | -1.829 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| R/I | 0.9332 | likely_pathogenic | 0.8862 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.686822101 | None | None | N |
| R/K | 0.4958 | ambiguous | 0.3961 | ambiguous | -1.236 | Destabilizing | 0.997 | D | 0.662 | neutral | D | 0.57760761 | None | None | N |
| R/L | 0.9037 | likely_pathogenic | 0.8405 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/M | 0.9382 | likely_pathogenic | 0.8909 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| R/N | 0.9877 | likely_pathogenic | 0.9794 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| R/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/Q | 0.4015 | ambiguous | 0.3119 | benign | -1.156 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| R/S | 0.973 | likely_pathogenic | 0.9551 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.68788158 | None | None | N |
| R/T | 0.952 | likely_pathogenic | 0.9168 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.758 | deleterious | D | 0.632647493 | None | None | N |
| R/V | 0.9413 | likely_pathogenic | 0.9065 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| R/W | 0.8051 | likely_pathogenic | 0.7415 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| R/Y | 0.9527 | likely_pathogenic | 0.9267 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.