Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9550 | 28873;28874;28875 | chr2:178709671;178709670;178709669 | chr2:179574398;179574397;179574396 |
| N2AB | 9233 | 27922;27923;27924 | chr2:178709671;178709670;178709669 | chr2:179574398;179574397;179574396 |
| N2A | 8306 | 25141;25142;25143 | chr2:178709671;178709670;178709669 | chr2:179574398;179574397;179574396 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs879094573  |
-0.325 | None | None | 0.152 | 0.129 | 0.367803931526 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs879094573 |
-0.325 | None | None | 0.152 | 0.129 | 0.367803931526 | gnomAD-4.0.0 | 2.05252E-06 | None | None | None | None | N | None | 0 | 4.47247E-05 | None | 0 | 0 | None | 0 | 0 | 8.99437E-07 | 0 | 0 |
| V/M | rs879094573 |
None | 0.093 | None | 0.537 | 0.144 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs879094573 |
None | 0.093 | None | 0.537 | 0.144 | None | gnomAD-4.0.0 | 6.19653E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47574E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1213 | likely_benign | 0.1163 | benign | -2.144 | Highly Destabilizing | 0.024 | N | 0.357 | neutral | None | None | None | None | N |
| V/C | 0.4367 | ambiguous | 0.4611 | ambiguous | -1.681 | Destabilizing | 0.628 | D | 0.606 | neutral | None | None | None | None | N |
| V/D | 0.2741 | likely_benign | 0.2611 | benign | -2.982 | Highly Destabilizing | 0.356 | N | 0.67 | neutral | None | None | None | None | N |
| V/E | 0.1898 | likely_benign | 0.1811 | benign | -2.778 | Highly Destabilizing | 0.055 | N | 0.651 | neutral | None | None | None | None | N |
| V/F | 0.0754 | likely_benign | 0.0769 | benign | -1.273 | Destabilizing | None | N | 0.395 | neutral | None | None | None | None | N |
| V/G | 0.1774 | likely_benign | 0.161 | benign | -2.658 | Highly Destabilizing | 0.106 | N | 0.649 | neutral | None | None | None | None | N |
| V/H | 0.2209 | likely_benign | 0.2373 | benign | -2.451 | Highly Destabilizing | None | N | 0.63 | neutral | None | None | None | None | N |
| V/I | 0.0598 | likely_benign | 0.0615 | benign | -0.711 | Destabilizing | 0.016 | N | 0.339 | neutral | None | None | None | None | N |
| V/K | 0.2382 | likely_benign | 0.237 | benign | -1.901 | Destabilizing | 0.136 | N | 0.649 | neutral | None | None | None | None | N |
| V/L | 0.0537 | likely_benign | 0.0632 | benign | -0.711 | Destabilizing | None | N | 0.152 | neutral | None | None | None | None | N |
| V/M | 0.0795 | likely_benign | 0.0814 | benign | -0.762 | Destabilizing | 0.093 | N | 0.537 | neutral | None | None | None | None | N |
| V/N | 0.1583 | likely_benign | 0.1534 | benign | -2.192 | Highly Destabilizing | 0.214 | N | 0.671 | neutral | None | None | None | None | N |
| V/P | 0.8903 | likely_pathogenic | 0.8646 | pathogenic | -1.163 | Destabilizing | 0.628 | D | 0.65 | neutral | None | None | None | None | N |
| V/Q | 0.1386 | likely_benign | 0.1465 | benign | -2.066 | Highly Destabilizing | 0.356 | N | 0.624 | neutral | None | None | None | None | N |
| V/R | 0.1907 | likely_benign | 0.1893 | benign | -1.65 | Destabilizing | 0.356 | N | 0.663 | neutral | None | None | None | None | N |
| V/S | 0.1157 | likely_benign | 0.1132 | benign | -2.744 | Highly Destabilizing | 0.136 | N | 0.648 | neutral | None | None | None | None | N |
| V/T | 0.1171 | likely_benign | 0.1174 | benign | -2.412 | Highly Destabilizing | 0.072 | N | 0.441 | neutral | None | None | None | None | N |
| V/W | 0.3902 | ambiguous | 0.3922 | ambiguous | -1.854 | Destabilizing | 0.676 | D | 0.632 | neutral | None | None | None | None | N |
| V/Y | 0.255 | likely_benign | 0.2609 | benign | -1.479 | Destabilizing | 0.038 | N | 0.64 | 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.