Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5457 | 16594;16595;16596 | chr2:178732692;178732691;178732690 | chr2:179597419;179597418;179597417 |
| N2AB | 5140 | 15643;15644;15645 | chr2:178732692;178732691;178732690 | chr2:179597419;179597418;179597417 |
| N2A | 4213 | 12862;12863;12864 | chr2:178732692;178732691;178732690 | chr2:179597419;179597418;179597417 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs774425875  |
-0.155 | 0.064 | N | 0.259 | 0.097 | 0.107399877778 | gnomAD-2.1.1 | 2.25E-05 | None | None | None | None | N | None | 4.2E-05 | 3.03E-05 | None | 0 | 0 | None | 3.59E-05 | None | 8.23E-05 | 0 | 1.50015E-04 |
| G/S | rs774425875 |
-0.155 | 0.064 | N | 0.259 | 0.097 | 0.107399877778 | gnomAD-4.0.0 | 1.38304E-05 | None | None | None | None | N | None | 3.05399E-05 | 2.35405E-05 | None | 3.94664E-05 | 0 | None | 3.77858E-05 | 1.76243E-04 | 3.62315E-06 | 1.19096E-04 | 0 |
| G/V | rs879144126 |
0.112 | None | N | 0.284 | 0.122 | None | gnomAD-2.1.1 | 4.24E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.28E-06 | 0 |
| G/V | rs879144126 |
0.112 | None | N | 0.284 | 0.122 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/V | rs879144126 |
0.112 | None | N | 0.284 | 0.122 | None | gnomAD-4.0.0 | 1.12575E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.53506E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.061 | likely_benign | 0.0587 | benign | -0.301 | Destabilizing | None | N | 0.079 | neutral | N | 0.434644776 | None | None | N |
| G/C | 0.1281 | likely_benign | 0.1111 | benign | -0.87 | Destabilizing | 0.8 | D | 0.453 | neutral | N | 0.509662609 | None | None | N |
| G/D | 0.075 | likely_benign | 0.0772 | benign | -0.47 | Destabilizing | None | N | 0.087 | neutral | N | 0.409055685 | None | None | N |
| G/E | 0.0698 | likely_benign | 0.0664 | benign | -0.633 | Destabilizing | None | N | 0.128 | neutral | None | None | None | None | N |
| G/F | 0.2126 | likely_benign | 0.2139 | benign | -1.033 | Destabilizing | 0.214 | N | 0.503 | neutral | None | None | None | None | N |
| G/H | 0.1472 | likely_benign | 0.1409 | benign | -0.618 | Destabilizing | 0.356 | N | 0.478 | neutral | None | None | None | None | N |
| G/I | 0.0874 | likely_benign | 0.0854 | benign | -0.44 | Destabilizing | 0.013 | N | 0.499 | neutral | None | None | None | None | N |
| G/K | 0.132 | likely_benign | 0.1209 | benign | -0.786 | Destabilizing | 0.016 | N | 0.371 | neutral | None | None | None | None | N |
| G/L | 0.1255 | likely_benign | 0.1213 | benign | -0.44 | Destabilizing | 0.016 | N | 0.397 | neutral | None | None | None | None | N |
| G/M | 0.17 | likely_benign | 0.1625 | benign | -0.468 | Destabilizing | 0.214 | N | 0.483 | neutral | None | None | None | None | N |
| G/N | 0.1174 | likely_benign | 0.1188 | benign | -0.43 | Destabilizing | 0.038 | N | 0.267 | neutral | None | None | None | None | N |
| G/P | 0.2879 | likely_benign | 0.2767 | benign | -0.361 | Destabilizing | 0.072 | N | 0.471 | neutral | None | None | None | None | N |
| G/Q | 0.1019 | likely_benign | 0.0942 | benign | -0.711 | Destabilizing | None | N | 0.163 | neutral | None | None | None | None | N |
| G/R | 0.1009 | likely_benign | 0.0902 | benign | -0.39 | Destabilizing | None | N | 0.16 | neutral | N | 0.405417947 | None | None | N |
| G/S | 0.0682 | likely_benign | 0.0686 | benign | -0.578 | Destabilizing | 0.064 | N | 0.259 | neutral | N | 0.41646166 | None | None | N |
| G/T | 0.0759 | likely_benign | 0.0735 | benign | -0.671 | Destabilizing | 0.016 | N | 0.358 | neutral | None | None | None | None | N |
| G/V | 0.0675 | likely_benign | 0.0651 | benign | -0.361 | Destabilizing | None | N | 0.284 | neutral | N | 0.435972927 | None | None | N |
| G/W | 0.1838 | likely_benign | 0.1717 | benign | -1.189 | Destabilizing | 0.864 | D | 0.447 | neutral | None | None | None | None | N |
| G/Y | 0.1649 | likely_benign | 0.1598 | benign | -0.836 | Destabilizing | 0.356 | N | 0.517 | 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.