Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16 | 271;272;273 | chr2:178804597;178804596;178804595 | chr2:179669324;179669323;179669322 |
| N2AB | 16 | 271;272;273 | chr2:178804597;178804596;178804595 | chr2:179669324;179669323;179669322 |
| N2A | 16 | 271;272;273 | chr2:178804597;178804596;178804595 | chr2:179669324;179669323;179669322 |
| N2B | 16 | 271;272;273 | chr2:178804597;178804596;178804595 | chr2:179669324;179669323;179669322 |
| Novex-1 | 16 | 271;272;273 | chr2:178804597;178804596;178804595 | chr2:179669324;179669323;179669322 |
| Novex-2 | 16 | 271;272;273 | chr2:178804597;178804596;178804595 | chr2:179669324;179669323;179669322 |
| Novex-3 | 16 | 271;272;273 | chr2:178804597;178804596;178804595 | chr2:179669324;179669323;179669322 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs756212082  |
-0.29 | 1.0 | N | 0.631 | 0.334 | None | gnomAD-2.1.1 | 2.12E-05 | None | None | None | 0.059(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.1E-05 | 1.38696E-04 |
| V/M | rs756212082 |
-0.29 | 1.0 | N | 0.631 | 0.334 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | 0.059(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/M | rs756212082 |
-0.29 | 1.0 | N | 0.631 | 0.334 | None | gnomAD-4.0.0 | 2.04472E-05 | None | None | None | 0.059(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54245E-05 | 1.09818E-05 | 3.20154E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1846 | likely_benign | 0.1755 | benign | -0.705 | Destabilizing | 0.999 | D | 0.51 | neutral | N | 0.487130459 | None | -0.176(TCAP) | N |
| V/C | 0.9507 | likely_pathogenic | 0.9418 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.61 | neutral | None | None | None | 0.562(TCAP) | N |
| V/D | 0.3894 | ambiguous | 0.3653 | ambiguous | -0.436 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | 1.594(TCAP) | N |
| V/E | 0.2532 | likely_benign | 0.2378 | benign | -0.485 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.439994076 | None | 1.617(TCAP) | N |
| V/F | 0.2723 | likely_benign | 0.247 | benign | -0.578 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | -0.093(TCAP) | N |
| V/G | 0.3548 | ambiguous | 0.338 | benign | -0.915 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.558537896 | None | -0.188(TCAP) | N |
| V/H | 0.7203 | likely_pathogenic | 0.6986 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | -0.546(TCAP) | N |
| V/I | 0.1 | likely_benign | 0.097 | benign | -0.272 | Destabilizing | 0.983 | D | 0.463 | neutral | None | None | None | -0.15(TCAP) | N |
| V/K | 0.4975 | ambiguous | 0.4745 | ambiguous | -0.733 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | -0.44(TCAP) | N |
| V/L | 0.237 | likely_benign | 0.2169 | benign | -0.272 | Destabilizing | 0.978 | D | 0.501 | neutral | N | 0.515012245 | None | -0.15(TCAP) | N |
| V/M | 0.1888 | likely_benign | 0.1711 | benign | -0.488 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.507534993 | None | 0.059(TCAP) | N |
| V/N | 0.3346 | likely_benign | 0.3184 | benign | -0.628 | Destabilizing | 0.998 | D | 0.708 | prob.delet. | None | None | None | 0.331(TCAP) | N |
| V/P | 0.7662 | likely_pathogenic | 0.7524 | pathogenic | -0.381 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | None | None | None | -0.157(TCAP) | N |
| V/Q | 0.3977 | ambiguous | 0.3786 | ambiguous | -0.781 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | 0.555(TCAP) | N |
| V/R | 0.4319 | ambiguous | 0.4057 | ambiguous | -0.228 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | -1.043(TCAP) | N |
| V/S | 0.2216 | likely_benign | 0.2088 | benign | -1.05 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | 0.077(TCAP) | N |
| V/T | 0.1517 | likely_benign | 0.1463 | benign | -0.987 | Destabilizing | 0.997 | D | 0.635 | neutral | None | None | None | 0.079(TCAP) | N |
| V/W | 0.8904 | likely_pathogenic | 0.8633 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | -0.454(TCAP) | N |
| V/Y | 0.7532 | likely_pathogenic | 0.7246 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | -0.326(TCAP) | 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.