Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29556 | 88891;88892;88893 | chr2:178554681;178554680;178554679 | chr2:179419408;179419407;179419406 |
| N2AB | 27915 | 83968;83969;83970 | chr2:178554681;178554680;178554679 | chr2:179419408;179419407;179419406 |
| N2A | 26988 | 81187;81188;81189 | chr2:178554681;178554680;178554679 | chr2:179419408;179419407;179419406 |
| N2B | 20491 | 61696;61697;61698 | chr2:178554681;178554680;178554679 | chr2:179419408;179419407;179419406 |
| Novex-1 | 20616 | 62071;62072;62073 | chr2:178554681;178554680;178554679 | chr2:179419408;179419407;179419406 |
| Novex-2 | 20683 | 62272;62273;62274 | chr2:178554681;178554680;178554679 | chr2:179419408;179419407;179419406 |
| 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 | None | None | 0.026 | N | 0.217 | 0.059 | 0.24896430686 | gnomAD-4.0.0 | 6.8417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99423E-07 | 0 | 0 |
| R/P | rs1207034709  |
None | 0.232 | N | 0.478 | 0.22 | 0.156986980423 | gnomAD-4.0.0 | 6.84164E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51978E-05 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | None | 0.128 | None | N | 0.121 | 0.048 | 0.0551355673512 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65618E-04 |
| R/Q | None | 0.128 | None | N | 0.121 | 0.048 | 0.0551355673512 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | None | 0.128 | None | N | 0.121 | 0.048 | 0.0551355673512 | gnomAD-4.0.0 | 1.05342E-05 | None | None | None | None | N | None | 1.33483E-05 | 0 | None | 0 | 6.68419E-05 | None | 0 | 1.6442E-04 | 3.39025E-06 | 0 | 1.28086E-04 |
| R/W | rs201657835 |
-0.31 | 0.964 | D | 0.445 | 0.14 | None | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.13E-05 | 0 |
| R/W | rs201657835 |
-0.31 | 0.964 | D | 0.445 | 0.14 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.44893E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/W | rs201657835 |
-0.31 | 0.964 | D | 0.445 | 0.14 | None | gnomAD-4.0.0 | 1.36327E-05 | None | None | None | None | N | None | 1.60235E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 7.62805E-06 | 1.09791E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1825 | likely_benign | 0.1709 | benign | -0.191 | Destabilizing | 0.007 | N | 0.202 | neutral | None | None | None | None | N |
| R/C | 0.101 | likely_benign | 0.101 | benign | -0.242 | Destabilizing | 0.864 | D | 0.439 | neutral | None | None | None | None | N |
| R/D | 0.3037 | likely_benign | 0.2821 | benign | 0.009 | Stabilizing | None | N | 0.189 | neutral | None | None | None | None | N |
| R/E | 0.1702 | likely_benign | 0.1578 | benign | 0.108 | Stabilizing | None | N | 0.081 | neutral | None | None | None | None | N |
| R/F | 0.3042 | likely_benign | 0.3077 | benign | -0.205 | Destabilizing | 0.628 | D | 0.525 | neutral | None | None | None | None | N |
| R/G | 0.1157 | likely_benign | 0.1138 | benign | -0.454 | Destabilizing | 0.026 | N | 0.217 | neutral | N | 0.44650406 | None | None | N |
| R/H | 0.0691 | likely_benign | 0.0674 | benign | -0.941 | Destabilizing | 0.214 | N | 0.423 | neutral | None | None | None | None | N |
| R/I | 0.1751 | likely_benign | 0.1681 | benign | 0.487 | Stabilizing | 0.136 | N | 0.577 | neutral | None | None | None | None | N |
| R/K | 0.0701 | likely_benign | 0.0716 | benign | -0.244 | Destabilizing | 0.007 | N | 0.14 | neutral | None | None | None | None | N |
| R/L | 0.1069 | likely_benign | 0.1025 | benign | 0.487 | Stabilizing | 0.058 | N | 0.359 | neutral | N | 0.438807297 | None | None | N |
| R/M | 0.1473 | likely_benign | 0.15 | benign | 0.027 | Stabilizing | 0.356 | N | 0.465 | neutral | None | None | None | None | N |
| R/N | 0.2188 | likely_benign | 0.2039 | benign | 0.107 | Stabilizing | 0.016 | N | 0.235 | neutral | None | None | None | None | N |
| R/P | 0.5622 | ambiguous | 0.4859 | ambiguous | 0.283 | Stabilizing | 0.232 | N | 0.478 | neutral | N | 0.485465093 | None | None | N |
| R/Q | 0.0671 | likely_benign | 0.0631 | benign | 0.001 | Stabilizing | None | N | 0.121 | neutral | N | 0.432457328 | None | None | N |
| R/S | 0.1864 | likely_benign | 0.1749 | benign | -0.387 | Destabilizing | None | N | 0.157 | neutral | None | None | None | None | N |
| R/T | 0.1289 | likely_benign | 0.1253 | benign | -0.125 | Destabilizing | 0.016 | N | 0.258 | neutral | None | None | None | None | N |
| R/V | 0.1978 | likely_benign | 0.1854 | benign | 0.283 | Stabilizing | 0.072 | N | 0.449 | neutral | None | None | None | None | N |
| R/W | 0.1308 | likely_benign | 0.1438 | benign | -0.099 | Destabilizing | 0.964 | D | 0.445 | neutral | D | 0.52325269 | None | None | N |
| R/Y | 0.1817 | likely_benign | 0.1866 | benign | 0.267 | Stabilizing | 0.356 | N | 0.57 | 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.