Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7933 | 24022;24023;24024 | chr2:178719695;178719694;178719693 | chr2:179584422;179584421;179584420 |
| N2AB | 7616 | 23071;23072;23073 | chr2:178719695;178719694;178719693 | chr2:179584422;179584421;179584420 |
| N2A | 6689 | 20290;20291;20292 | chr2:178719695;178719694;178719693 | chr2:179584422;179584421;179584420 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs748211413  |
0.051 | 0.049 | N | 0.14 | 0.086 | 0.0716867268079 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45236E-04 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/N | rs748211413 |
0.051 | 0.049 | N | 0.14 | 0.086 | 0.0716867268079 | gnomAD-4.0.0 | 5.4739E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.76349E-04 | None | 0 | 0 | 8.99504E-07 | 0 | 0 |
| S/R | rs971822039 |
-0.056 | None | N | 0.092 | 0.127 | 0.0806252709748 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| S/R | rs971822039 |
-0.056 | None | N | 0.092 | 0.127 | 0.0806252709748 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.0746 | likely_benign | 0.0728 | benign | -0.133 | Destabilizing | 0.001 | N | 0.065 | neutral | None | None | None | None | N |
| S/C | 0.1022 | likely_benign | 0.0988 | benign | -0.145 | Destabilizing | 0.73 | D | 0.207 | neutral | N | 0.483977813 | None | None | N |
| S/D | 0.1331 | likely_benign | 0.1319 | benign | -0.012 | Destabilizing | 0.064 | N | 0.129 | neutral | None | None | None | None | N |
| S/E | 0.1674 | likely_benign | 0.1715 | benign | -0.106 | Destabilizing | 0.033 | N | 0.152 | neutral | None | None | None | None | N |
| S/F | 0.1779 | likely_benign | 0.1888 | benign | -0.791 | Destabilizing | 0.076 | N | 0.375 | neutral | None | None | None | None | N |
| S/G | 0.063 | likely_benign | 0.0614 | benign | -0.218 | Destabilizing | 0.049 | N | 0.155 | neutral | N | 0.477447751 | None | None | N |
| S/H | 0.1095 | likely_benign | 0.1096 | benign | -0.557 | Destabilizing | 0.367 | N | 0.205 | neutral | None | None | None | None | N |
| S/I | 0.1142 | likely_benign | 0.1129 | benign | -0.041 | Destabilizing | 0.059 | N | 0.293 | neutral | N | 0.460847129 | None | None | N |
| S/K | 0.1483 | likely_benign | 0.1539 | benign | -0.364 | Destabilizing | None | N | 0.094 | neutral | None | None | None | None | N |
| S/L | 0.1033 | likely_benign | 0.1069 | benign | -0.041 | Destabilizing | 0.015 | N | 0.221 | neutral | None | None | None | None | N |
| S/M | 0.1612 | likely_benign | 0.1619 | benign | -0.035 | Destabilizing | 0.54 | D | 0.203 | neutral | None | None | None | None | N |
| S/N | 0.0702 | likely_benign | 0.0682 | benign | 0.008 | Stabilizing | 0.049 | N | 0.14 | neutral | N | 0.431947535 | None | None | N |
| S/P | 0.1203 | likely_benign | 0.1221 | benign | -0.045 | Destabilizing | 0.251 | N | 0.294 | neutral | None | None | None | None | N |
| S/Q | 0.1351 | likely_benign | 0.1368 | benign | -0.218 | Destabilizing | 0.006 | N | 0.117 | neutral | None | None | None | None | N |
| S/R | 0.1107 | likely_benign | 0.1091 | benign | -0.093 | Destabilizing | None | N | 0.092 | neutral | N | 0.443703323 | None | None | N |
| S/T | 0.0774 | likely_benign | 0.0778 | benign | -0.076 | Destabilizing | 0.049 | N | 0.171 | neutral | N | 0.487955533 | None | None | N |
| S/V | 0.1341 | likely_benign | 0.1348 | benign | -0.045 | Destabilizing | None | N | 0.114 | neutral | None | None | None | None | N |
| S/W | 0.183 | likely_benign | 0.1799 | benign | -0.893 | Destabilizing | 0.816 | D | 0.254 | neutral | None | None | None | None | N |
| S/Y | 0.1263 | likely_benign | 0.1269 | benign | -0.578 | Destabilizing | 0.002 | N | 0.183 | 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.