Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28855 | 86788;86789;86790 | chr2:178559569;178559568;178559567 | chr2:179424296;179424295;179424294 |
| N2AB | 27214 | 81865;81866;81867 | chr2:178559569;178559568;178559567 | chr2:179424296;179424295;179424294 |
| N2A | 26287 | 79084;79085;79086 | chr2:178559569;178559568;178559567 | chr2:179424296;179424295;179424294 |
| N2B | 19790 | 59593;59594;59595 | chr2:178559569;178559568;178559567 | chr2:179424296;179424295;179424294 |
| Novex-1 | 19915 | 59968;59969;59970 | chr2:178559569;178559568;178559567 | chr2:179424296;179424295;179424294 |
| Novex-2 | 19982 | 60169;60170;60171 | chr2:178559569;178559568;178559567 | chr2:179424296;179424295;179424294 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1383781795  |
0.45 | None | N | 0.077 | 0.072 | 0.0986583533028 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/R | rs1383781795 |
0.45 | None | N | 0.077 | 0.072 | 0.0986583533028 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1332 | likely_benign | 0.1328 | benign | -0.292 | Destabilizing | 0.002 | N | 0.226 | neutral | None | None | None | None | N |
| Q/C | 0.254 | likely_benign | 0.2419 | benign | 0.24 | Stabilizing | 0.497 | N | 0.322 | neutral | None | None | None | None | N |
| Q/D | 0.2814 | likely_benign | 0.2897 | benign | None | Stabilizing | 0.018 | N | 0.257 | neutral | None | None | None | None | N |
| Q/E | 0.0955 | likely_benign | 0.0977 | benign | -0.009 | Destabilizing | 0.003 | N | 0.175 | neutral | N | 0.409137751 | None | None | N |
| Q/F | 0.407 | ambiguous | 0.4093 | ambiguous | -0.382 | Destabilizing | 0.138 | N | 0.451 | neutral | None | None | None | None | N |
| Q/G | 0.1622 | likely_benign | 0.154 | benign | -0.521 | Destabilizing | None | N | 0.141 | neutral | None | None | None | None | N |
| Q/H | 0.0883 | likely_benign | 0.0908 | benign | -0.454 | Destabilizing | None | N | 0.107 | neutral | N | 0.458009133 | None | None | N |
| Q/I | 0.2256 | likely_benign | 0.2182 | benign | 0.231 | Stabilizing | 0.085 | N | 0.474 | neutral | None | None | None | None | N |
| Q/K | 0.0552 | likely_benign | 0.0562 | benign | 0.03 | Stabilizing | None | N | 0.034 | neutral | N | 0.373851741 | None | None | N |
| Q/L | 0.0952 | likely_benign | 0.0965 | benign | 0.231 | Stabilizing | 0.014 | N | 0.273 | neutral | N | 0.415391719 | None | None | N |
| Q/M | 0.22 | likely_benign | 0.2179 | benign | 0.577 | Stabilizing | 0.497 | N | 0.275 | neutral | None | None | None | None | N |
| Q/N | 0.1695 | likely_benign | 0.1787 | benign | -0.3 | Destabilizing | 0.009 | N | 0.246 | neutral | None | None | None | None | N |
| Q/P | 0.3826 | ambiguous | 0.3993 | ambiguous | 0.086 | Stabilizing | 0.065 | N | 0.346 | neutral | N | 0.484579659 | None | None | N |
| Q/R | 0.0619 | likely_benign | 0.0605 | benign | 0.16 | Stabilizing | None | N | 0.077 | neutral | N | 0.421682974 | None | None | N |
| Q/S | 0.1386 | likely_benign | 0.1402 | benign | -0.328 | Destabilizing | None | N | 0.048 | neutral | None | None | None | None | N |
| Q/T | 0.0915 | likely_benign | 0.092 | benign | -0.17 | Destabilizing | 0.009 | N | 0.32 | neutral | None | None | None | None | N |
| Q/V | 0.154 | likely_benign | 0.1515 | benign | 0.086 | Stabilizing | 0.018 | N | 0.313 | neutral | None | None | None | None | N |
| Q/W | 0.2995 | likely_benign | 0.272 | benign | -0.321 | Destabilizing | 0.788 | D | 0.313 | neutral | None | None | None | None | N |
| Q/Y | 0.2422 | likely_benign | 0.2461 | benign | -0.081 | Destabilizing | 0.022 | N | 0.411 | 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.