Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30630 | 92113;92114;92115 | chr2:178549834;178549833;178549832 | chr2:179414561;179414560;179414559 |
| N2AB | 28989 | 87190;87191;87192 | chr2:178549834;178549833;178549832 | chr2:179414561;179414560;179414559 |
| N2A | 28062 | 84409;84410;84411 | chr2:178549834;178549833;178549832 | chr2:179414561;179414560;179414559 |
| N2B | 21565 | 64918;64919;64920 | chr2:178549834;178549833;178549832 | chr2:179414561;179414560;179414559 |
| Novex-1 | 21690 | 65293;65294;65295 | chr2:178549834;178549833;178549832 | chr2:179414561;179414560;179414559 |
| Novex-2 | 21757 | 65494;65495;65496 | chr2:178549834;178549833;178549832 | chr2:179414561;179414560;179414559 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.898 | N | 0.509 | 0.312 | 0.266385636622 | 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 |
| T/I | rs1305609938  |
-0.037 | 0.997 | N | 0.786 | 0.356 | 0.389126455913 | gnomAD-2.1.1 | 4.24E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.24E-06 | 0 |
| T/I | rs1305609938 |
-0.037 | 0.997 | N | 0.786 | 0.356 | 0.389126455913 | gnomAD-4.0.0 | 7.64067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.00041E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1227 | likely_benign | 0.1607 | benign | -0.922 | Destabilizing | 0.898 | D | 0.509 | neutral | N | 0.469459908 | None | None | N |
| T/C | 0.4709 | ambiguous | 0.5616 | ambiguous | -0.457 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/D | 0.5211 | ambiguous | 0.6449 | pathogenic | -0.167 | Destabilizing | 0.995 | D | 0.677 | prob.neutral | None | None | None | None | N |
| T/E | 0.4424 | ambiguous | 0.5682 | pathogenic | -0.125 | Destabilizing | 0.995 | D | 0.669 | neutral | None | None | None | None | N |
| T/F | 0.4609 | ambiguous | 0.5769 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| T/G | 0.3019 | likely_benign | 0.3515 | ambiguous | -1.218 | Destabilizing | 0.966 | D | 0.622 | neutral | None | None | None | None | N |
| T/H | 0.3462 | ambiguous | 0.4209 | ambiguous | -1.371 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| T/I | 0.3899 | ambiguous | 0.5056 | ambiguous | -0.213 | Destabilizing | 0.997 | D | 0.786 | deleterious | N | 0.484423838 | None | None | N |
| T/K | 0.3167 | likely_benign | 0.4318 | ambiguous | -0.673 | Destabilizing | 0.995 | D | 0.675 | prob.neutral | None | None | None | None | N |
| T/L | 0.1852 | likely_benign | 0.248 | benign | -0.213 | Destabilizing | 0.983 | D | 0.603 | neutral | None | None | None | None | N |
| T/M | 0.1504 | likely_benign | 0.1942 | benign | -0.021 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/N | 0.1941 | likely_benign | 0.2398 | benign | -0.738 | Destabilizing | 0.993 | D | 0.611 | neutral | N | 0.490869072 | None | None | N |
| T/P | 0.5838 | likely_pathogenic | 0.7168 | pathogenic | -0.417 | Destabilizing | 0.997 | D | 0.787 | deleterious | N | 0.495414976 | None | None | N |
| T/Q | 0.2795 | likely_benign | 0.3554 | ambiguous | -0.778 | Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| T/R | 0.2554 | likely_benign | 0.3656 | ambiguous | -0.505 | Destabilizing | 0.995 | D | 0.787 | deleterious | None | None | None | None | N |
| T/S | 0.1074 | likely_benign | 0.1296 | benign | -1.038 | Destabilizing | 0.362 | N | 0.273 | neutral | N | 0.422048333 | None | None | N |
| T/V | 0.2701 | likely_benign | 0.347 | ambiguous | -0.417 | Destabilizing | 0.983 | D | 0.523 | neutral | None | None | None | None | N |
| T/W | 0.735 | likely_pathogenic | 0.8216 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| T/Y | 0.456 | ambiguous | 0.5657 | pathogenic | -0.638 | Destabilizing | 0.999 | D | 0.823 | 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.