Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19464 | 58615;58616;58617 | chr2:178594003;178594002;178594001 | chr2:179458730;179458729;179458728 |
| N2AB | 17823 | 53692;53693;53694 | chr2:178594003;178594002;178594001 | chr2:179458730;179458729;179458728 |
| N2A | 16896 | 50911;50912;50913 | chr2:178594003;178594002;178594001 | chr2:179458730;179458729;179458728 |
| N2B | 10399 | 31420;31421;31422 | chr2:178594003;178594002;178594001 | chr2:179458730;179458729;179458728 |
| Novex-1 | 10524 | 31795;31796;31797 | chr2:178594003;178594002;178594001 | chr2:179458730;179458729;179458728 |
| Novex-2 | 10591 | 31996;31997;31998 | chr2:178594003;178594002;178594001 | chr2:179458730;179458729;179458728 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.883 | N | 0.369 | 0.435 | 0.499727662827 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-06 | 0 | 0 |
| S/R | None | None | 0.497 | N | 0.318 | 0.286 | 0.298403945805 | gnomAD-4.0.0 | 5.47432E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29683E-06 | 0 | 1.65684E-05 |
| S/T | None | None | None | N | 0.186 | 0.146 | 0.280181792013 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0655 | likely_benign | 0.0654 | benign | -0.214 | Destabilizing | 0.002 | N | 0.167 | neutral | None | None | None | None | I |
| S/C | 0.1001 | likely_benign | 0.1328 | benign | -0.323 | Destabilizing | 0.883 | D | 0.369 | neutral | N | 0.489979333 | None | None | I |
| S/D | 0.3046 | likely_benign | 0.3168 | benign | -0.138 | Destabilizing | 0.272 | N | 0.241 | neutral | None | None | None | None | I |
| S/E | 0.4006 | ambiguous | 0.4088 | ambiguous | -0.253 | Destabilizing | 0.272 | N | 0.255 | neutral | None | None | None | None | I |
| S/F | 0.2492 | likely_benign | 0.2494 | benign | -0.989 | Destabilizing | 0.726 | D | 0.485 | neutral | None | None | None | None | I |
| S/G | 0.0838 | likely_benign | 0.0892 | benign | -0.235 | Destabilizing | 0.104 | N | 0.273 | neutral | N | 0.520151749 | None | None | I |
| S/H | 0.3451 | ambiguous | 0.3738 | ambiguous | -0.602 | Destabilizing | 0.968 | D | 0.369 | neutral | None | None | None | None | I |
| S/I | 0.115 | likely_benign | 0.1179 | benign | -0.284 | Destabilizing | 0.331 | N | 0.409 | neutral | D | 0.539257585 | None | None | I |
| S/K | 0.5611 | ambiguous | 0.5862 | pathogenic | -0.392 | Destabilizing | 0.272 | N | 0.245 | neutral | None | None | None | None | I |
| S/L | 0.0962 | likely_benign | 0.0965 | benign | -0.284 | Destabilizing | 0.157 | N | 0.339 | neutral | None | None | None | None | I |
| S/M | 0.1639 | likely_benign | 0.1728 | benign | -0.138 | Destabilizing | 0.909 | D | 0.353 | neutral | None | None | None | None | I |
| S/N | 0.1107 | likely_benign | 0.1198 | benign | -0.124 | Destabilizing | 0.22 | N | 0.287 | neutral | D | 0.528771232 | None | None | I |
| S/P | 0.1697 | likely_benign | 0.1778 | benign | -0.239 | Destabilizing | 0.726 | D | 0.285 | neutral | None | None | None | None | I |
| S/Q | 0.4205 | ambiguous | 0.4437 | ambiguous | -0.373 | Destabilizing | 0.726 | D | 0.275 | neutral | None | None | None | None | I |
| S/R | 0.5156 | ambiguous | 0.5451 | ambiguous | -0.152 | Destabilizing | 0.497 | N | 0.318 | neutral | N | 0.502392707 | None | None | I |
| S/T | 0.0691 | likely_benign | 0.0706 | benign | -0.239 | Destabilizing | None | N | 0.186 | neutral | N | 0.499776477 | None | None | I |
| S/V | 0.1206 | likely_benign | 0.1256 | benign | -0.239 | Destabilizing | 0.157 | N | 0.347 | neutral | None | None | None | None | I |
| S/W | 0.4816 | ambiguous | 0.4937 | ambiguous | -1.072 | Destabilizing | 0.968 | D | 0.619 | neutral | None | None | None | None | I |
| S/Y | 0.2716 | likely_benign | 0.2761 | benign | -0.763 | Destabilizing | 0.726 | D | 0.486 | neutral | None | None | None | None | I |
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.