Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14541 | 43846;43847;43848 | chr2:178632273;178632272;178632271 | chr2:179497000;179496999;179496998 |
| N2AB | 12900 | 38923;38924;38925 | chr2:178632273;178632272;178632271 | chr2:179497000;179496999;179496998 |
| N2A | 11973 | 36142;36143;36144 | chr2:178632273;178632272;178632271 | chr2:179497000;179496999;179496998 |
| N2B | 5476 | 16651;16652;16653 | chr2:178632273;178632272;178632271 | chr2:179497000;179496999;179496998 |
| Novex-1 | 5601 | 17026;17027;17028 | chr2:178632273;178632272;178632271 | chr2:179497000;179496999;179496998 |
| Novex-2 | 5668 | 17227;17228;17229 | chr2:178632273;178632272;178632271 | chr2:179497000;179496999;179496998 |
| 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/L | rs768180052  |
-0.282 | None | N | 0.154 | 0.284 | 0.149567049428 | gnomAD-2.1.1 | 8.25E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.37E-05 | None | 0 | 9.11E-06 | 0 |
| S/L | rs768180052 |
-0.282 | None | N | 0.154 | 0.284 | 0.149567049428 | gnomAD-4.0.0 | 5.4887E-06 | None | None | None | None | N | None | 0 | 4.52202E-05 | None | 0 | 0 | None | 0 | 0 | 3.60387E-06 | 2.33907E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0699 | likely_benign | 0.0648 | benign | -0.672 | Destabilizing | None | N | 0.1 | neutral | N | 0.453245838 | None | None | N |
| S/C | 0.0978 | likely_benign | 0.0943 | benign | -0.402 | Destabilizing | None | N | 0.257 | neutral | None | None | None | None | N |
| S/D | 0.1788 | likely_benign | 0.1505 | benign | 0.235 | Stabilizing | 0.004 | N | 0.322 | neutral | None | None | None | None | N |
| S/E | 0.2431 | likely_benign | 0.1907 | benign | 0.16 | Stabilizing | 0.004 | N | 0.303 | neutral | None | None | None | None | N |
| S/F | 0.0971 | likely_benign | 0.0943 | benign | -1.173 | Destabilizing | None | N | 0.2 | neutral | None | None | None | None | N |
| S/G | 0.0857 | likely_benign | 0.0709 | benign | -0.811 | Destabilizing | 0.002 | N | 0.27 | neutral | None | None | None | None | N |
| S/H | 0.1254 | likely_benign | 0.1035 | benign | -1.353 | Destabilizing | 0.069 | N | 0.529 | neutral | None | None | None | None | N |
| S/I | 0.0899 | likely_benign | 0.0798 | benign | -0.426 | Destabilizing | 0.001 | N | 0.311 | neutral | None | None | None | None | N |
| S/K | 0.2043 | likely_benign | 0.1407 | benign | -0.519 | Destabilizing | 0.002 | N | 0.286 | neutral | None | None | None | None | N |
| S/L | 0.0774 | likely_benign | 0.0723 | benign | -0.426 | Destabilizing | None | N | 0.154 | neutral | N | 0.424874831 | None | None | N |
| S/M | 0.1432 | likely_benign | 0.1237 | benign | -0.063 | Destabilizing | 0.021 | N | 0.559 | neutral | None | None | None | None | N |
| S/N | 0.0791 | likely_benign | 0.0651 | benign | -0.254 | Destabilizing | None | N | 0.126 | neutral | None | None | None | None | N |
| S/P | 0.2147 | likely_benign | 0.2159 | benign | -0.479 | Destabilizing | 0.032 | N | 0.525 | neutral | N | 0.453309215 | None | None | N |
| S/Q | 0.2008 | likely_benign | 0.149 | benign | -0.523 | Destabilizing | 0.021 | N | 0.413 | neutral | None | None | None | None | N |
| S/R | 0.1269 | likely_benign | 0.0889 | benign | -0.363 | Destabilizing | None | N | 0.188 | neutral | None | None | None | None | N |
| S/T | 0.0747 | likely_benign | 0.0691 | benign | -0.41 | Destabilizing | 0.001 | N | 0.271 | neutral | N | 0.259935641 | None | None | N |
| S/V | 0.102 | likely_benign | 0.0938 | benign | -0.479 | Destabilizing | None | N | 0.152 | neutral | None | None | None | None | N |
| S/W | 0.1306 | likely_benign | 0.1118 | benign | -1.098 | Destabilizing | 0.225 | N | 0.555 | neutral | N | 0.453368359 | None | None | N |
| S/Y | 0.0883 | likely_benign | 0.09 | benign | -0.85 | Destabilizing | 0.011 | N | 0.491 | 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.