Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31059 | 93400;93401;93402 | chr2:178548451;178548450;178548449 | chr2:179413178;179413177;179413176 |
| N2AB | 29418 | 88477;88478;88479 | chr2:178548451;178548450;178548449 | chr2:179413178;179413177;179413176 |
| N2A | 28491 | 85696;85697;85698 | chr2:178548451;178548450;178548449 | chr2:179413178;179413177;179413176 |
| N2B | 21994 | 66205;66206;66207 | chr2:178548451;178548450;178548449 | chr2:179413178;179413177;179413176 |
| Novex-1 | 22119 | 66580;66581;66582 | chr2:178548451;178548450;178548449 | chr2:179413178;179413177;179413176 |
| Novex-2 | 22186 | 66781;66782;66783 | chr2:178548451;178548450;178548449 | chr2:179413178;179413177;179413176 |
| 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 | rs769465936  |
-0.093 | 1.0 | N | 0.591 | 0.512 | 0.315314060047 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/T | rs774647356 |
-0.166 | 0.999 | N | 0.409 | 0.263 | 0.202086224978 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs774647356 |
-0.166 | 0.999 | N | 0.409 | 0.263 | 0.202086224978 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99446E-07 | 1.15931E-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 | 0.1152 | likely_benign | 0.1107 | benign | -0.17 | Destabilizing | 0.998 | D | 0.42 | neutral | None | None | None | None | N |
| S/C | 0.2874 | likely_benign | 0.2749 | benign | -0.467 | Destabilizing | 1.0 | D | 0.646 | neutral | N | 0.49338706 | None | None | N |
| S/D | 0.8349 | likely_pathogenic | 0.7821 | pathogenic | 0.096 | Stabilizing | 0.999 | D | 0.5 | neutral | None | None | None | None | N |
| S/E | 0.8788 | likely_pathogenic | 0.8349 | pathogenic | 0.001 | Stabilizing | 0.999 | D | 0.496 | neutral | None | None | None | None | N |
| S/F | 0.5582 | ambiguous | 0.5379 | ambiguous | -0.807 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/G | 0.1229 | likely_benign | 0.1067 | benign | -0.252 | Destabilizing | 0.999 | D | 0.423 | neutral | N | 0.45271517 | None | None | N |
| S/H | 0.7737 | likely_pathogenic | 0.7199 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| S/I | 0.49 | ambiguous | 0.4423 | ambiguous | -0.088 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.475029315 | None | None | N |
| S/K | 0.9617 | likely_pathogenic | 0.9356 | pathogenic | -0.463 | Destabilizing | 0.999 | D | 0.491 | neutral | None | None | None | None | N |
| S/L | 0.1945 | likely_benign | 0.1865 | benign | -0.088 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| S/M | 0.3728 | ambiguous | 0.3604 | ambiguous | -0.152 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| S/N | 0.3458 | ambiguous | 0.3101 | benign | -0.287 | Destabilizing | 0.999 | D | 0.475 | neutral | N | 0.47578403 | None | None | N |
| S/P | 0.6313 | likely_pathogenic | 0.5607 | ambiguous | -0.088 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| S/Q | 0.8298 | likely_pathogenic | 0.7843 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| S/R | 0.9489 | likely_pathogenic | 0.9139 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.504877573 | None | None | N |
| S/T | 0.1149 | likely_benign | 0.112 | benign | -0.371 | Destabilizing | 0.999 | D | 0.409 | neutral | N | 0.40700431 | None | None | N |
| S/V | 0.404 | ambiguous | 0.3618 | ambiguous | -0.088 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| S/W | 0.7476 | likely_pathogenic | 0.6892 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| S/Y | 0.588 | likely_pathogenic | 0.5292 | ambiguous | -0.566 | Destabilizing | 1.0 | D | 0.702 | prob.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.