Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 164 | 715;716;717 | chr2:178800488;178800487;178800486 | chr2:179665215;179665214;179665213 |
| N2AB | 164 | 715;716;717 | chr2:178800488;178800487;178800486 | chr2:179665215;179665214;179665213 |
| N2A | 164 | 715;716;717 | chr2:178800488;178800487;178800486 | chr2:179665215;179665214;179665213 |
| N2B | 164 | 715;716;717 | chr2:178800488;178800487;178800486 | chr2:179665215;179665214;179665213 |
| Novex-1 | 164 | 715;716;717 | chr2:178800488;178800487;178800486 | chr2:179665215;179665214;179665213 |
| Novex-2 | 164 | 715;716;717 | chr2:178800488;178800487;178800486 | chr2:179665215;179665214;179665213 |
| Novex-3 | 164 | 715;716;717 | chr2:178800488;178800487;178800486 | chr2:179665215;179665214;179665213 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs140166195  |
-0.374 | 0.918 | N | 0.563 | 0.274 | None | gnomAD-2.1.1 | 7.95E-06 | None | None | None | -0.478(TCAP) | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 0 | 0 |
| A/V | rs140166195 |
-0.374 | 0.918 | N | 0.563 | 0.274 | None | gnomAD-4.0.0 | 1.59045E-06 | None | None | None | -0.478(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 1.88175E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8644 | likely_pathogenic | 0.8502 | pathogenic | -0.963 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | -0.161(TCAP) | N |
| A/D | 0.8821 | likely_pathogenic | 0.9043 | pathogenic | -1.065 | Destabilizing | 0.949 | D | 0.609 | neutral | None | None | None | -0.299(TCAP) | N |
| A/E | 0.7643 | likely_pathogenic | 0.7942 | pathogenic | -1.154 | Destabilizing | 0.075 | N | 0.335 | neutral | N | 0.408338544 | None | -0.403(TCAP) | N |
| A/F | 0.7961 | likely_pathogenic | 0.8157 | pathogenic | -1.103 | Destabilizing | 0.996 | D | 0.693 | prob.neutral | None | None | None | 0.175(TCAP) | N |
| A/G | 0.3802 | ambiguous | 0.3995 | ambiguous | -1.027 | Destabilizing | 0.281 | N | 0.461 | neutral | N | 0.479640412 | None | -0.402(TCAP) | N |
| A/H | 0.8836 | likely_pathogenic | 0.8916 | pathogenic | -1.031 | Destabilizing | 0.999 | D | 0.658 | neutral | None | None | None | 0.446(TCAP) | N |
| A/I | 0.7211 | likely_pathogenic | 0.7524 | pathogenic | -0.527 | Destabilizing | 0.996 | D | 0.721 | prob.delet. | None | None | None | -0.51(TCAP) | N |
| A/K | 0.8772 | likely_pathogenic | 0.8838 | pathogenic | -1.096 | Destabilizing | 0.952 | D | 0.599 | neutral | None | None | None | -0.576(TCAP) | N |
| A/L | 0.4943 | ambiguous | 0.5297 | ambiguous | -0.527 | Destabilizing | 0.975 | D | 0.578 | neutral | None | None | None | -0.51(TCAP) | N |
| A/M | 0.5976 | likely_pathogenic | 0.6144 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | -0.176(TCAP) | N |
| A/N | 0.7667 | likely_pathogenic | 0.7913 | pathogenic | -0.777 | Destabilizing | 0.686 | D | 0.687 | prob.neutral | None | None | None | -0.422(TCAP) | N |
| A/P | 0.8482 | likely_pathogenic | 0.87 | pathogenic | -0.595 | Destabilizing | 0.983 | D | 0.722 | prob.delet. | N | 0.402584418 | None | -0.478(TCAP) | N |
| A/Q | 0.7091 | likely_pathogenic | 0.7257 | pathogenic | -1.044 | Destabilizing | 0.993 | D | 0.723 | prob.delet. | None | None | None | -0.375(TCAP) | N |
| A/R | 0.7631 | likely_pathogenic | 0.7656 | pathogenic | -0.631 | Destabilizing | 0.993 | D | 0.722 | prob.delet. | None | None | None | -0.676(TCAP) | N |
| A/S | 0.1831 | likely_benign | 0.1945 | benign | -1.091 | Destabilizing | 0.008 | N | 0.337 | neutral | N | 0.425411487 | None | -0.209(TCAP) | N |
| A/T | 0.2788 | likely_benign | 0.3064 | benign | -1.098 | Destabilizing | 0.724 | D | 0.52 | neutral | N | 0.407975082 | None | -0.291(TCAP) | N |
| A/V | 0.4402 | ambiguous | 0.4773 | ambiguous | -0.595 | Destabilizing | 0.918 | D | 0.563 | neutral | N | 0.472454225 | None | -0.478(TCAP) | N |
| A/W | 0.9579 | likely_pathogenic | 0.9611 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | 0.209(TCAP) | N |
| A/Y | 0.8717 | likely_pathogenic | 0.887 | pathogenic | -0.953 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | 0.203(TCAP) | 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.