Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17313 | 52162;52163;52164 | chr2:178609373;178609372;178609371 | chr2:179474100;179474099;179474098 |
| N2AB | 15672 | 47239;47240;47241 | chr2:178609373;178609372;178609371 | chr2:179474100;179474099;179474098 |
| N2A | 14745 | 44458;44459;44460 | chr2:178609373;178609372;178609371 | chr2:179474100;179474099;179474098 |
| N2B | 8248 | 24967;24968;24969 | chr2:178609373;178609372;178609371 | chr2:179474100;179474099;179474098 |
| Novex-1 | 8373 | 25342;25343;25344 | chr2:178609373;178609372;178609371 | chr2:179474100;179474099;179474098 |
| Novex-2 | 8440 | 25543;25544;25545 | chr2:178609373;178609372;178609371 | chr2:179474100;179474099;179474098 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs372927085  |
None | 0.003 | N | 0.621 | 0.178 | None | gnomAD-4.0.0 | 3.42407E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50001E-06 | 0 | 0 |
| P/Q | None | -0.328 | 0.879 | N | 0.769 | 0.202 | 0.313518423057 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/Q | None | -0.328 | 0.879 | N | 0.769 | 0.202 | 0.313518423057 | gnomAD-4.0.0 | 1.36963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80001E-06 | 0 | 0 |
| P/R | rs372927085 |
0.114 | 0.782 | N | 0.781 | 0.214 | 0.36036328697 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.57E-05 | 0 |
| P/R | rs372927085 |
0.114 | 0.782 | N | 0.781 | 0.214 | 0.36036328697 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/R | rs372927085 |
0.114 | 0.782 | N | 0.781 | 0.214 | 0.36036328697 | gnomAD-4.0.0 | 4.34205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08894E-06 | 1.09912E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0704 | likely_benign | 0.0817 | benign | -0.42 | Destabilizing | 0.174 | N | 0.711 | prob.delet. | N | 0.475584534 | None | None | N |
| P/C | 0.3344 | likely_benign | 0.376 | ambiguous | -0.825 | Destabilizing | 0.973 | D | 0.781 | deleterious | None | None | None | None | N |
| P/D | 0.2053 | likely_benign | 0.2369 | benign | -0.526 | Destabilizing | 0.826 | D | 0.757 | deleterious | None | None | None | None | N |
| P/E | 0.1469 | likely_benign | 0.1634 | benign | -0.636 | Destabilizing | 0.826 | D | 0.767 | deleterious | None | None | None | None | N |
| P/F | 0.3289 | likely_benign | 0.3805 | ambiguous | -0.792 | Destabilizing | 0.704 | D | 0.809 | deleterious | None | None | None | None | N |
| P/G | 0.1986 | likely_benign | 0.2397 | benign | -0.476 | Destabilizing | 0.575 | D | 0.757 | deleterious | None | None | None | None | N |
| P/H | 0.1433 | likely_benign | 0.1634 | benign | -0.065 | Destabilizing | 0.991 | D | 0.734 | prob.delet. | None | None | None | None | N |
| P/I | 0.1783 | likely_benign | 0.2058 | benign | -0.407 | Destabilizing | 0.704 | D | 0.784 | deleterious | None | None | None | None | N |
| P/K | 0.1687 | likely_benign | 0.1977 | benign | -0.509 | Destabilizing | 0.826 | D | 0.763 | deleterious | None | None | None | None | N |
| P/L | 0.1045 | likely_benign | 0.1174 | benign | -0.407 | Destabilizing | 0.003 | N | 0.621 | neutral | N | 0.495306446 | None | None | N |
| P/M | 0.2229 | likely_benign | 0.2586 | benign | -0.698 | Destabilizing | 0.826 | D | 0.755 | deleterious | None | None | None | None | N |
| P/N | 0.1718 | likely_benign | 0.2014 | benign | -0.321 | Destabilizing | 0.826 | D | 0.778 | deleterious | None | None | None | None | N |
| P/Q | 0.112 | likely_benign | 0.1322 | benign | -0.528 | Destabilizing | 0.879 | D | 0.769 | deleterious | N | 0.475757893 | None | None | N |
| P/R | 0.1374 | likely_benign | 0.1525 | benign | -0.058 | Destabilizing | 0.782 | D | 0.781 | deleterious | N | 0.494959729 | None | None | N |
| P/S | 0.0961 | likely_benign | 0.1128 | benign | -0.589 | Destabilizing | 0.338 | N | 0.717 | prob.delet. | N | 0.456998774 | None | None | N |
| P/T | 0.0752 | likely_benign | 0.0854 | benign | -0.615 | Destabilizing | 0.003 | N | 0.55 | neutral | N | 0.494613012 | None | None | N |
| P/V | 0.1237 | likely_benign | 0.1427 | benign | -0.385 | Destabilizing | 0.404 | N | 0.723 | prob.delet. | None | None | None | None | N |
| P/W | 0.519 | ambiguous | 0.5578 | ambiguous | -0.851 | Destabilizing | 0.991 | D | 0.787 | deleterious | None | None | None | None | N |
| P/Y | 0.2983 | likely_benign | 0.336 | benign | -0.593 | Destabilizing | 0.906 | D | 0.808 | 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.