Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8731 | 26416;26417;26418 | chr2:178714995;178714994;178714993 | chr2:179579722;179579721;179579720 |
| N2AB | 8414 | 25465;25466;25467 | chr2:178714995;178714994;178714993 | chr2:179579722;179579721;179579720 |
| N2A | 7487 | 22684;22685;22686 | chr2:178714995;178714994;178714993 | chr2:179579722;179579721;179579720 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1013992395  |
None | 0.232 | N | 0.315 | 0.083 | 0.202086224978 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1013992395 |
None | 0.232 | N | 0.315 | 0.083 | 0.202086224978 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | N | None | 0 | 6.54793E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.013 | N | 0.208 | 0.055 | 0.0986583533028 | gnomAD-4.0.0 | 1.37455E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80484E-06 | 0 | 0 |
| A/T | rs1013992395 |
-0.556 | None | N | 0.057 | 0.085 | 0.0920862733494 | gnomAD-2.1.1 | 8.23E-06 | None | None | None | None | N | None | 0 | 5.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1013992395 |
-0.556 | None | N | 0.057 | 0.085 | 0.0920862733494 | 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 |
| A/T | rs1013992395 |
-0.556 | None | N | 0.057 | 0.085 | 0.0920862733494 | gnomAD-4.0.0 | 9.95547E-06 | None | None | None | None | N | None | 0 | 8.36204E-05 | None | 0 | 0 | None | 0 | 0 | 7.65211E-06 | 0 | 3.21554E-05 |
| A/V | rs1479171654 |
0.08 | None | N | 0.065 | 0.08 | 0.171388866994 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.1E-06 | 0 |
| A/V | rs1479171654 |
0.08 | None | N | 0.065 | 0.08 | 0.171388866994 | gnomAD-4.0.0 | 4.82279E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77608E-05 | None | 0 | 0 | 5.77624E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2743 | likely_benign | 0.2933 | benign | -0.88 | Destabilizing | 0.356 | N | 0.317 | neutral | None | None | None | None | N |
| A/D | 0.1636 | likely_benign | 0.2077 | benign | -0.602 | Destabilizing | 0.055 | N | 0.301 | neutral | N | 0.489184897 | None | None | N |
| A/E | 0.1368 | likely_benign | 0.1573 | benign | -0.662 | Destabilizing | 0.016 | N | 0.277 | neutral | None | None | None | None | N |
| A/F | 0.1248 | likely_benign | 0.129 | benign | -0.845 | Destabilizing | 0.072 | N | 0.371 | neutral | None | None | None | None | N |
| A/G | 0.1164 | likely_benign | 0.1286 | benign | -0.884 | Destabilizing | 0.024 | N | 0.2 | neutral | N | 0.47129257 | None | None | N |
| A/H | 0.1784 | likely_benign | 0.1835 | benign | -0.992 | Destabilizing | 0.356 | N | 0.326 | neutral | None | None | None | None | N |
| A/I | 0.0841 | likely_benign | 0.0883 | benign | -0.256 | Destabilizing | 0.006 | N | 0.28 | neutral | None | None | None | None | N |
| A/K | 0.1439 | likely_benign | 0.165 | benign | -0.959 | Destabilizing | None | N | 0.121 | neutral | None | None | None | None | N |
| A/L | 0.0729 | likely_benign | 0.0768 | benign | -0.256 | Destabilizing | None | N | 0.125 | neutral | None | None | None | None | N |
| A/M | 0.0934 | likely_benign | 0.0978 | benign | -0.318 | Destabilizing | 0.214 | N | 0.32 | neutral | None | None | None | None | N |
| A/N | 0.1106 | likely_benign | 0.1309 | benign | -0.681 | Destabilizing | 0.072 | N | 0.28 | neutral | None | None | None | None | N |
| A/P | 0.2761 | likely_benign | 0.4498 | ambiguous | -0.353 | Destabilizing | 0.232 | N | 0.315 | neutral | N | 0.48987833 | None | None | N |
| A/Q | 0.1445 | likely_benign | 0.1493 | benign | -0.847 | Destabilizing | 0.072 | N | 0.323 | neutral | None | None | None | None | N |
| A/R | 0.1295 | likely_benign | 0.1413 | benign | -0.64 | Destabilizing | 0.016 | N | 0.29 | neutral | None | None | None | None | N |
| A/S | 0.0703 | likely_benign | 0.0729 | benign | -1.05 | Destabilizing | 0.013 | N | 0.208 | neutral | N | 0.417727444 | None | None | N |
| A/T | 0.0558 | likely_benign | 0.0568 | benign | -1.01 | Destabilizing | None | N | 0.057 | neutral | N | 0.341938819 | None | None | N |
| A/V | 0.0692 | likely_benign | 0.069 | benign | -0.353 | Destabilizing | None | N | 0.065 | neutral | N | 0.401757913 | None | None | N |
| A/W | 0.3795 | ambiguous | 0.4118 | ambiguous | -1.121 | Destabilizing | 0.864 | D | 0.356 | neutral | None | None | None | None | N |
| A/Y | 0.1878 | likely_benign | 0.2036 | benign | -0.721 | Destabilizing | 0.356 | N | 0.405 | 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.