Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9602 | 29029;29030;29031 | chr2:178707763;178707762;178707761 | chr2:179572490;179572489;179572488 |
| N2AB | 9285 | 28078;28079;28080 | chr2:178707763;178707762;178707761 | chr2:179572490;179572489;179572488 |
| N2A | 8358 | 25297;25298;25299 | chr2:178707763;178707762;178707761 | chr2:179572490;179572489;179572488 |
| 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/R | rs768790360  |
-0.178 | 0.033 | None | 0.461 | 0.219 | 0.0762999501168 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/R | rs768790360 |
-0.178 | 0.033 | None | 0.461 | 0.219 | 0.0762999501168 | gnomAD-4.0.0 | 3.18313E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86722E-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 | 0.0785 | likely_benign | 0.068 | benign | -0.384 | Destabilizing | 0.004 | N | 0.255 | neutral | None | None | None | None | N |
| S/C | 0.1353 | likely_benign | 0.113 | benign | -0.411 | Destabilizing | 0.196 | N | 0.419 | neutral | None | None | None | None | N |
| S/D | 0.2425 | likely_benign | 0.1819 | benign | 0.162 | Stabilizing | None | N | 0.172 | neutral | None | None | None | None | N |
| S/E | 0.3078 | likely_benign | 0.2429 | benign | 0.101 | Stabilizing | None | N | 0.198 | neutral | None | None | None | None | N |
| S/F | 0.201 | likely_benign | 0.1591 | benign | -0.767 | Destabilizing | 0.138 | N | 0.544 | neutral | None | None | None | None | N |
| S/G | 0.0937 | likely_benign | 0.075 | benign | -0.554 | Destabilizing | None | N | 0.178 | neutral | None | None | None | None | N |
| S/H | 0.2396 | likely_benign | 0.176 | benign | -1.003 | Destabilizing | 0.138 | N | 0.414 | neutral | None | None | None | None | N |
| S/I | 0.1288 | likely_benign | 0.0938 | benign | -0.064 | Destabilizing | None | N | 0.285 | neutral | None | None | None | None | N |
| S/K | 0.3709 | ambiguous | 0.2579 | benign | -0.586 | Destabilizing | 0.009 | N | 0.297 | neutral | None | None | None | None | N |
| S/L | 0.096 | likely_benign | 0.086 | benign | -0.064 | Destabilizing | 0.009 | N | 0.429 | neutral | None | None | None | None | N |
| S/M | 0.1803 | likely_benign | 0.1435 | benign | 0.03 | Stabilizing | 0.138 | N | 0.415 | neutral | None | None | None | None | N |
| S/N | 0.0986 | likely_benign | 0.0776 | benign | -0.417 | Destabilizing | None | N | 0.182 | neutral | None | None | None | None | N |
| S/P | 0.1471 | likely_benign | 0.1502 | benign | -0.139 | Destabilizing | 0.085 | N | 0.462 | neutral | None | None | None | None | N |
| S/Q | 0.3224 | likely_benign | 0.2403 | benign | -0.604 | Destabilizing | 0.022 | N | 0.318 | neutral | None | None | None | None | N |
| S/R | 0.2844 | likely_benign | 0.1831 | benign | -0.403 | Destabilizing | 0.033 | N | 0.461 | neutral | None | None | None | None | N |
| S/T | 0.0744 | likely_benign | 0.0639 | benign | -0.486 | Destabilizing | None | N | 0.171 | neutral | None | None | None | None | N |
| S/V | 0.1514 | likely_benign | 0.1169 | benign | -0.139 | Destabilizing | None | N | 0.261 | neutral | None | None | None | None | N |
| S/W | 0.2988 | likely_benign | 0.2282 | benign | -0.772 | Destabilizing | 0.788 | D | 0.529 | neutral | None | None | None | None | N |
| S/Y | 0.185 | likely_benign | 0.143 | benign | -0.498 | Destabilizing | 0.245 | N | 0.541 | 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.