Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7295 | 22108;22109;22110 | chr2:178723124;178723123;178723122 | chr2:179587851;179587850;179587849 |
| N2AB | 6978 | 21157;21158;21159 | chr2:178723124;178723123;178723122 | chr2:179587851;179587850;179587849 |
| N2A | 6051 | 18376;18377;18378 | chr2:178723124;178723123;178723122 | chr2:179587851;179587850;179587849 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs752809738  |
-0.13 | None | N | 0.205 | 0.045 | 0.0401082797425 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/G | rs752809738 |
-0.13 | None | N | 0.205 | 0.045 | 0.0401082797425 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| R/I | None | None | 0.033 | N | 0.505 | 0.053 | 0.0716867268079 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 0 |
| R/S | rs1411254237 |
0.121 | 0.003 | N | 0.231 | 0.035 | 0.0401082797425 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 2.29516E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/S | rs1411254237 |
0.121 | 0.003 | N | 0.231 | 0.035 | 0.0401082797425 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs1411254237 |
0.121 | 0.003 | N | 0.231 | 0.035 | 0.0401082797425 | gnomAD-4.0.0 | 3.09885E-06 | None | None | None | None | I | None | 4.00481E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69539E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.0857 | likely_benign | 0.0886 | benign | -0.034 | Destabilizing | 0.002 | N | 0.225 | neutral | None | None | None | None | I |
| R/C | 0.1594 | likely_benign | 0.1598 | benign | -0.201 | Destabilizing | 0.497 | N | 0.294 | neutral | None | None | None | None | I |
| R/D | 0.0995 | likely_benign | 0.1147 | benign | -0.258 | Destabilizing | None | N | 0.209 | neutral | None | None | None | None | I |
| R/E | 0.0823 | likely_benign | 0.0873 | benign | -0.225 | Destabilizing | None | N | 0.148 | neutral | None | None | None | None | I |
| R/F | 0.2487 | likely_benign | 0.2675 | benign | -0.369 | Destabilizing | None | N | 0.269 | neutral | None | None | None | None | I |
| R/G | 0.0578 | likely_benign | 0.061 | benign | -0.168 | Destabilizing | None | N | 0.205 | neutral | N | 0.3951013 | None | None | I |
| R/H | 0.0828 | likely_benign | 0.0877 | benign | -0.639 | Destabilizing | 0.245 | N | 0.34 | neutral | None | None | None | None | I |
| R/I | 0.0991 | likely_benign | 0.1062 | benign | 0.275 | Stabilizing | 0.033 | N | 0.505 | neutral | N | 0.474332875 | None | None | I |
| R/K | 0.0698 | likely_benign | 0.0685 | benign | -0.152 | Destabilizing | None | N | 0.183 | neutral | N | 0.378497052 | None | None | I |
| R/L | 0.1046 | likely_benign | 0.1085 | benign | 0.275 | Stabilizing | 0.009 | N | 0.275 | neutral | None | None | None | None | I |
| R/M | 0.106 | likely_benign | 0.1127 | benign | -0.041 | Destabilizing | 0.245 | N | 0.317 | neutral | None | None | None | None | I |
| R/N | 0.1224 | likely_benign | 0.1295 | benign | 0.026 | Stabilizing | None | N | 0.183 | neutral | None | None | None | None | I |
| R/P | 0.2672 | likely_benign | 0.2626 | benign | 0.19 | Stabilizing | 0.037 | N | 0.431 | neutral | None | None | None | None | I |
| R/Q | 0.0679 | likely_benign | 0.0707 | benign | -0.066 | Destabilizing | None | N | 0.214 | neutral | None | None | None | None | I |
| R/S | 0.0938 | likely_benign | 0.1026 | benign | -0.219 | Destabilizing | 0.003 | N | 0.231 | neutral | N | 0.372029652 | None | None | I |
| R/T | 0.0671 | likely_benign | 0.0701 | benign | -0.082 | Destabilizing | None | N | 0.202 | neutral | N | 0.404971577 | None | None | I |
| R/V | 0.1174 | likely_benign | 0.1272 | benign | 0.19 | Stabilizing | 0.009 | N | 0.318 | neutral | None | None | None | None | I |
| R/W | 0.1113 | likely_benign | 0.1212 | benign | -0.518 | Destabilizing | 0.788 | D | 0.287 | neutral | None | None | None | None | I |
| R/Y | 0.1663 | likely_benign | 0.1829 | benign | -0.116 | Destabilizing | 0.022 | N | 0.495 | 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.