Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 113 | 562;563;564 | chr2:178800641;178800640;178800639 | chr2:179665368;179665367;179665366 |
| N2AB | 113 | 562;563;564 | chr2:178800641;178800640;178800639 | chr2:179665368;179665367;179665366 |
| N2A | 113 | 562;563;564 | chr2:178800641;178800640;178800639 | chr2:179665368;179665367;179665366 |
| N2B | 113 | 562;563;564 | chr2:178800641;178800640;178800639 | chr2:179665368;179665367;179665366 |
| Novex-1 | 113 | 562;563;564 | chr2:178800641;178800640;178800639 | chr2:179665368;179665367;179665366 |
| Novex-2 | 113 | 562;563;564 | chr2:178800641;178800640;178800639 | chr2:179665368;179665367;179665366 |
| Novex-3 | 113 | 562;563;564 | chr2:178800641;178800640;178800639 | chr2:179665368;179665367;179665366 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.008 | N | 0.119 | 0.241 | 0.44143026662 | gnomAD-4.0.0 | 1.59693E-06 | None | None | None | -0.817(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44155E-05 | 0 |
| M/T | rs2094010012  |
None | 0.013 | N | 0.167 | 0.343 | 0.676897640743 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | -0.344(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| M/V | rs1060500430 |
-0.479 | 0.226 | N | 0.289 | 0.253 | 0.420570264827 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | -0.839(TCAP) | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/V | rs1060500430 |
-0.479 | 0.226 | N | 0.289 | 0.253 | 0.420570264827 | gnomAD-4.0.0 | 3.19452E-06 | None | None | None | -0.839(TCAP) | N | None | 0 | 2.29474E-05 | None | 0 | 0 | None | 0 | 0 | 2.8686E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.7402 | likely_pathogenic | 0.8038 | pathogenic | -1.135 | Destabilizing | 0.482 | N | 0.283 | neutral | None | None | None | -0.887(TCAP) | N |
| M/C | 0.9636 | likely_pathogenic | 0.9615 | pathogenic | -0.956 | Destabilizing | 0.996 | D | 0.449 | neutral | None | None | None | 0.185(TCAP) | N |
| M/D | 0.9877 | likely_pathogenic | 0.9921 | pathogenic | -0.038 | Destabilizing | 0.756 | D | 0.553 | neutral | None | None | None | 0.097(TCAP) | N |
| M/E | 0.8694 | likely_pathogenic | 0.909 | pathogenic | -0.031 | Destabilizing | 0.556 | D | 0.495 | neutral | None | None | None | 0.054(TCAP) | N |
| M/F | 0.7027 | likely_pathogenic | 0.7389 | pathogenic | -0.348 | Destabilizing | 0.325 | N | 0.359 | neutral | None | None | None | -0.129(TCAP) | N |
| M/G | 0.9515 | likely_pathogenic | 0.9658 | pathogenic | -1.412 | Destabilizing | 0.81 | D | 0.417 | neutral | None | None | None | -0.91(TCAP) | N |
| M/H | 0.9104 | likely_pathogenic | 0.93 | pathogenic | -0.517 | Destabilizing | 0.989 | D | 0.523 | neutral | None | None | None | 0.026(TCAP) | N |
| M/I | 0.7572 | likely_pathogenic | 0.8238 | pathogenic | -0.455 | Destabilizing | 0.008 | N | 0.119 | neutral | N | 0.450860841 | None | -0.817(TCAP) | N |
| M/K | 0.6072 | likely_pathogenic | 0.7206 | pathogenic | -0.131 | Destabilizing | 0.373 | N | 0.433 | neutral | N | 0.478255417 | None | -0.273(TCAP) | N |
| M/L | 0.3366 | likely_benign | 0.3854 | ambiguous | -0.455 | Destabilizing | 0.001 | N | 0.055 | neutral | N | 0.440290093 | None | -0.817(TCAP) | N |
| M/N | 0.9285 | likely_pathogenic | 0.9499 | pathogenic | -0.036 | Destabilizing | 0.756 | D | 0.537 | neutral | None | None | None | -0.49(TCAP) | N |
| M/P | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | -0.653 | Destabilizing | 0.863 | D | 0.593 | neutral | None | None | None | -0.839(TCAP) | N |
| M/Q | 0.5255 | ambiguous | 0.6165 | pathogenic | -0.112 | Destabilizing | 0.897 | D | 0.422 | neutral | None | None | None | -0.31(TCAP) | N |
| M/R | 0.6632 | likely_pathogenic | 0.7649 | pathogenic | 0.322 | Stabilizing | 0.863 | D | 0.496 | neutral | N | 0.468991794 | None | -0.448(TCAP) | N |
| M/S | 0.8285 | likely_pathogenic | 0.8733 | pathogenic | -0.595 | Destabilizing | 0.053 | N | 0.155 | neutral | None | None | None | -0.332(TCAP) | N |
| M/T | 0.6264 | likely_pathogenic | 0.7238 | pathogenic | -0.47 | Destabilizing | 0.013 | N | 0.167 | neutral | N | 0.452537385 | None | -0.344(TCAP) | N |
| M/V | 0.2009 | likely_benign | 0.2396 | benign | -0.653 | Destabilizing | 0.226 | N | 0.289 | neutral | N | 0.382704706 | None | -0.839(TCAP) | N |
| M/W | 0.9636 | likely_pathogenic | 0.9711 | pathogenic | -0.309 | Destabilizing | 0.999 | D | 0.427 | neutral | None | None | None | -0.075(TCAP) | N |
| M/Y | 0.9225 | likely_pathogenic | 0.9348 | pathogenic | -0.26 | Destabilizing | 0.992 | D | 0.558 | neutral | None | None | None | -0.248(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.