Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22099 | 66520;66521;66522 | chr2:178582074;178582073;178582072 | chr2:179446801;179446800;179446799 |
| N2AB | 20458 | 61597;61598;61599 | chr2:178582074;178582073;178582072 | chr2:179446801;179446800;179446799 |
| N2A | 19531 | 58816;58817;58818 | chr2:178582074;178582073;178582072 | chr2:179446801;179446800;179446799 |
| N2B | 13034 | 39325;39326;39327 | chr2:178582074;178582073;178582072 | chr2:179446801;179446800;179446799 |
| Novex-1 | 13159 | 39700;39701;39702 | chr2:178582074;178582073;178582072 | chr2:179446801;179446800;179446799 |
| Novex-2 | 13226 | 39901;39902;39903 | chr2:178582074;178582073;178582072 | chr2:179446801;179446800;179446799 |
| 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/S | rs1575927891  |
None | 0.006 | N | 0.206 | 0.061 | 0.110078149338 | gnomAD-4.0.0 | 1.59232E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86026E-06 | 0 | 0 |
| A/V | rs2047904068 |
None | 0.193 | N | 0.323 | 0.136 | 0.371531589858 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| A/V | rs2047904068 |
None | 0.193 | N | 0.323 | 0.136 | 0.371531589858 | gnomAD-4.0.0 | 7.69221E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.42863E-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 | 0.506 | ambiguous | 0.5517 | ambiguous | -0.706 | Destabilizing | 0.944 | D | 0.373 | neutral | None | None | None | None | N |
| A/D | 0.4187 | ambiguous | 0.3928 | ambiguous | -0.762 | Destabilizing | 0.001 | N | 0.263 | neutral | N | 0.436246994 | None | None | N |
| A/E | 0.4586 | ambiguous | 0.4338 | ambiguous | -0.929 | Destabilizing | 0.004 | N | 0.174 | neutral | None | None | None | None | N |
| A/F | 0.4739 | ambiguous | 0.5137 | ambiguous | -1.063 | Destabilizing | 0.818 | D | 0.393 | neutral | None | None | None | None | N |
| A/G | 0.1412 | likely_benign | 0.1478 | benign | -0.448 | Destabilizing | 0.09 | N | 0.336 | neutral | N | 0.43097446 | None | None | N |
| A/H | 0.5351 | ambiguous | 0.5485 | ambiguous | -0.518 | Destabilizing | 0.818 | D | 0.387 | neutral | None | None | None | None | N |
| A/I | 0.4646 | ambiguous | 0.4791 | ambiguous | -0.485 | Destabilizing | 0.527 | D | 0.377 | neutral | None | None | None | None | N |
| A/K | 0.6721 | likely_pathogenic | 0.6799 | pathogenic | -0.774 | Destabilizing | 0.241 | N | 0.325 | neutral | None | None | None | None | N |
| A/L | 0.2439 | likely_benign | 0.2479 | benign | -0.485 | Destabilizing | 0.241 | N | 0.323 | neutral | None | None | None | None | N |
| A/M | 0.2774 | likely_benign | 0.2928 | benign | -0.41 | Destabilizing | 0.944 | D | 0.357 | neutral | None | None | None | None | N |
| A/N | 0.2713 | likely_benign | 0.2659 | benign | -0.359 | Destabilizing | 0.241 | N | 0.337 | neutral | None | None | None | None | N |
| A/P | 0.8262 | likely_pathogenic | 0.8184 | pathogenic | -0.426 | Destabilizing | 0.773 | D | 0.384 | neutral | N | 0.462569591 | None | None | N |
| A/Q | 0.4286 | ambiguous | 0.4232 | ambiguous | -0.699 | Destabilizing | 0.69 | D | 0.383 | neutral | None | None | None | None | N |
| A/R | 0.6275 | likely_pathogenic | 0.6195 | pathogenic | -0.24 | Destabilizing | 0.69 | D | 0.364 | neutral | None | None | None | None | N |
| A/S | 0.089 | likely_benign | 0.0878 | benign | -0.513 | Destabilizing | 0.006 | N | 0.206 | neutral | N | 0.374043742 | None | None | N |
| A/T | 0.1188 | likely_benign | 0.1219 | benign | -0.615 | Destabilizing | 0.001 | N | 0.129 | neutral | N | 0.44144217 | None | None | N |
| A/V | 0.2223 | likely_benign | 0.2264 | benign | -0.426 | Destabilizing | 0.193 | N | 0.323 | neutral | N | 0.492199065 | None | None | N |
| A/W | 0.811 | likely_pathogenic | 0.8336 | pathogenic | -1.177 | Destabilizing | 0.981 | D | 0.491 | neutral | None | None | None | None | N |
| A/Y | 0.5718 | likely_pathogenic | 0.6017 | pathogenic | -0.853 | Destabilizing | 0.818 | D | 0.39 | 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.