Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19246 | 57961;57962;57963 | chr2:178595618;178595617;178595616 | chr2:179460345;179460344;179460343 |
| N2AB | 17605 | 53038;53039;53040 | chr2:178595618;178595617;178595616 | chr2:179460345;179460344;179460343 |
| N2A | 16678 | 50257;50258;50259 | chr2:178595618;178595617;178595616 | chr2:179460345;179460344;179460343 |
| N2B | 10181 | 30766;30767;30768 | chr2:178595618;178595617;178595616 | chr2:179460345;179460344;179460343 |
| Novex-1 | 10306 | 31141;31142;31143 | chr2:178595618;178595617;178595616 | chr2:179460345;179460344;179460343 |
| Novex-2 | 10373 | 31342;31343;31344 | chr2:178595618;178595617;178595616 | chr2:179460345;179460344;179460343 |
| 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/H | None | None | 0.999 | N | 0.699 | 0.284 | 0.274366138417 | gnomAD-4.0.0 | 1.62833E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.8231E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | None | None | 0.997 | N | 0.588 | 0.41 | 0.247322355667 | gnomAD-4.0.0 | 1.62689E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.48712E-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 | 0.1692 | likely_benign | 0.1753 | benign | -0.242 | Destabilizing | 0.997 | D | 0.605 | neutral | None | None | None | None | N |
| Q/C | 0.61 | likely_pathogenic | 0.655 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| Q/D | 0.3345 | likely_benign | 0.3555 | ambiguous | 0.136 | Stabilizing | 0.997 | D | 0.589 | neutral | None | None | None | None | N |
| Q/E | 0.0843 | likely_benign | 0.0943 | benign | 0.105 | Stabilizing | 0.992 | D | 0.428 | neutral | N | 0.463356238 | None | None | N |
| Q/F | 0.6542 | likely_pathogenic | 0.6736 | pathogenic | -0.473 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| Q/G | 0.2634 | likely_benign | 0.2855 | benign | -0.415 | Destabilizing | 0.997 | D | 0.61 | neutral | None | None | None | None | N |
| Q/H | 0.1867 | likely_benign | 0.1939 | benign | -0.267 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | N | 0.484657017 | None | None | N |
| Q/I | 0.3728 | ambiguous | 0.4004 | ambiguous | 0.121 | Stabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| Q/K | 0.1085 | likely_benign | 0.1178 | benign | 0.116 | Stabilizing | 0.997 | D | 0.551 | neutral | N | 0.449061576 | None | None | N |
| Q/L | 0.1328 | likely_benign | 0.1473 | benign | 0.121 | Stabilizing | 0.997 | D | 0.61 | neutral | N | 0.491737705 | None | None | N |
| Q/M | 0.328 | likely_benign | 0.3499 | ambiguous | 0.352 | Stabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Q/N | 0.2325 | likely_benign | 0.2357 | benign | -0.244 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| Q/P | 0.1103 | likely_benign | 0.1218 | benign | 0.028 | Stabilizing | 0.999 | D | 0.767 | deleterious | N | 0.480461918 | None | None | N |
| Q/R | 0.1215 | likely_benign | 0.1325 | benign | 0.268 | Stabilizing | 0.997 | D | 0.588 | neutral | N | 0.448504215 | None | None | N |
| Q/S | 0.1865 | likely_benign | 0.1831 | benign | -0.254 | Destabilizing | 0.997 | D | 0.551 | neutral | None | None | None | None | N |
| Q/T | 0.1486 | likely_benign | 0.1532 | benign | -0.129 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| Q/V | 0.2282 | likely_benign | 0.2442 | benign | 0.028 | Stabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| Q/W | 0.5268 | ambiguous | 0.5835 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.4389 | ambiguous | 0.4759 | ambiguous | -0.186 | Destabilizing | 0.999 | D | 0.772 | deleterious | 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.