Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32543 | 97852;97853;97854 | chr2:178541450;178541449;178541448 | chr2:179406177;179406176;179406175 |
| N2AB | 30902 | 92929;92930;92931 | chr2:178541450;178541449;178541448 | chr2:179406177;179406176;179406175 |
| N2A | 29975 | 90148;90149;90150 | chr2:178541450;178541449;178541448 | chr2:179406177;179406176;179406175 |
| N2B | 23478 | 70657;70658;70659 | chr2:178541450;178541449;178541448 | chr2:179406177;179406176;179406175 |
| Novex-1 | 23603 | 71032;71033;71034 | chr2:178541450;178541449;178541448 | chr2:179406177;179406176;179406175 |
| Novex-2 | 23670 | 71233;71234;71235 | chr2:178541450;178541449;178541448 | chr2:179406177;179406176;179406175 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs747893721  |
-0.803 | 0.489 | N | 0.39 | 0.387 | 0.245660935333 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/G | rs747893721 |
-0.803 | 0.489 | N | 0.39 | 0.387 | 0.245660935333 | gnomAD-4.0.0 | 1.36869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79921E-06 | 0 | 0 |
| A/T | rs1289223812 |
-0.745 | 0.698 | N | 0.337 | 0.185 | 0.198526703765 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65893E-04 |
| A/T | rs1289223812 |
-0.745 | 0.698 | N | 0.337 | 0.185 | 0.198526703765 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1289223812 |
-0.745 | 0.698 | N | 0.337 | 0.185 | 0.198526703765 | gnomAD-4.0.0 | 6.19882E-06 | None | None | None | None | N | None | 0 | 0 | None | 6.7595E-05 | 0 | None | 0 | 0 | 3.39114E-06 | 0 | 6.40697E-05 |
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 | 0.4463 | ambiguous | 0.4754 | ambiguous | -0.849 | Destabilizing | 0.998 | D | 0.459 | neutral | None | None | None | None | N |
| A/D | 0.5429 | ambiguous | 0.593 | pathogenic | -0.931 | Destabilizing | 0.956 | D | 0.472 | neutral | None | None | None | None | N |
| A/E | 0.53 | ambiguous | 0.5851 | pathogenic | -1.085 | Destabilizing | 0.822 | D | 0.388 | neutral | N | 0.422162976 | None | None | N |
| A/F | 0.5675 | likely_pathogenic | 0.6468 | pathogenic | -1.075 | Destabilizing | 0.978 | D | 0.551 | neutral | None | None | None | None | N |
| A/G | 0.1117 | likely_benign | 0.1194 | benign | -0.588 | Destabilizing | 0.489 | N | 0.39 | neutral | N | 0.411580623 | None | None | N |
| A/H | 0.6441 | likely_pathogenic | 0.6973 | pathogenic | -0.593 | Destabilizing | 0.994 | D | 0.567 | neutral | None | None | None | None | N |
| A/I | 0.5788 | likely_pathogenic | 0.6471 | pathogenic | -0.549 | Destabilizing | 0.978 | D | 0.455 | neutral | None | None | None | None | N |
| A/K | 0.7552 | likely_pathogenic | 0.7891 | pathogenic | -0.99 | Destabilizing | 0.754 | D | 0.383 | neutral | None | None | None | None | N |
| A/L | 0.3073 | likely_benign | 0.3593 | ambiguous | -0.549 | Destabilizing | 0.86 | D | 0.393 | neutral | None | None | None | None | N |
| A/M | 0.3582 | ambiguous | 0.4168 | ambiguous | -0.477 | Destabilizing | 0.998 | D | 0.479 | neutral | None | None | None | None | N |
| A/N | 0.3574 | ambiguous | 0.4083 | ambiguous | -0.647 | Destabilizing | 0.915 | D | 0.479 | neutral | None | None | None | None | N |
| A/P | 0.8299 | likely_pathogenic | 0.8518 | pathogenic | -0.507 | Destabilizing | 0.971 | D | 0.457 | neutral | N | 0.462569591 | None | None | N |
| A/Q | 0.5395 | ambiguous | 0.5853 | pathogenic | -0.965 | Destabilizing | 0.956 | D | 0.446 | neutral | None | None | None | None | N |
| A/R | 0.6877 | likely_pathogenic | 0.7274 | pathogenic | -0.408 | Destabilizing | 0.956 | D | 0.455 | neutral | None | None | None | None | N |
| A/S | 0.0761 | likely_benign | 0.0789 | benign | -0.806 | Destabilizing | 0.025 | N | 0.279 | neutral | N | 0.326367226 | None | None | N |
| A/T | 0.1191 | likely_benign | 0.1366 | benign | -0.892 | Destabilizing | 0.698 | D | 0.337 | neutral | N | 0.365213615 | None | None | N |
| A/V | 0.2737 | likely_benign | 0.3232 | benign | -0.507 | Destabilizing | 0.822 | D | 0.341 | neutral | N | 0.455566261 | None | None | N |
| A/W | 0.8463 | likely_pathogenic | 0.88 | pathogenic | -1.205 | Destabilizing | 0.998 | D | 0.674 | neutral | None | None | None | None | N |
| A/Y | 0.6684 | likely_pathogenic | 0.7229 | pathogenic | -0.898 | Destabilizing | 0.993 | D | 0.558 | neutral | 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.