Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28110 | 84553;84554;84555 | chr2:178561804;178561803;178561802 | chr2:179426531;179426530;179426529 |
| N2AB | 26469 | 79630;79631;79632 | chr2:178561804;178561803;178561802 | chr2:179426531;179426530;179426529 |
| N2A | 25542 | 76849;76850;76851 | chr2:178561804;178561803;178561802 | chr2:179426531;179426530;179426529 |
| N2B | 19045 | 57358;57359;57360 | chr2:178561804;178561803;178561802 | chr2:179426531;179426530;179426529 |
| Novex-1 | 19170 | 57733;57734;57735 | chr2:178561804;178561803;178561802 | chr2:179426531;179426530;179426529 |
| Novex-2 | 19237 | 57934;57935;57936 | chr2:178561804;178561803;178561802 | chr2:179426531;179426530;179426529 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 0.944 | N | 0.418 | 0.2 | 0.275215494804 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79901E-06 | 0 | 0 |
| A/T | None | None | 0.892 | N | 0.446 | 0.195 | 0.278968121808 | gnomAD-4.0.0 | 6.84288E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99504E-07 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7306 | likely_pathogenic | 0.6934 | pathogenic | -0.725 | Destabilizing | 0.999 | D | 0.505 | neutral | None | None | None | None | I |
| A/D | 0.9173 | likely_pathogenic | 0.924 | pathogenic | -0.762 | Destabilizing | 0.996 | D | 0.521 | neutral | None | None | None | None | I |
| A/E | 0.8243 | likely_pathogenic | 0.8368 | pathogenic | -0.834 | Destabilizing | 0.983 | D | 0.573 | neutral | N | 0.502914703 | None | None | I |
| A/F | 0.6977 | likely_pathogenic | 0.7251 | pathogenic | -0.871 | Destabilizing | 0.975 | D | 0.523 | neutral | None | None | None | None | I |
| A/G | 0.3509 | ambiguous | 0.3666 | ambiguous | -0.806 | Destabilizing | 0.944 | D | 0.425 | neutral | N | 0.513035697 | None | None | I |
| A/H | 0.8694 | likely_pathogenic | 0.8726 | pathogenic | -0.876 | Destabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | I |
| A/I | 0.5103 | ambiguous | 0.5402 | ambiguous | -0.297 | Destabilizing | 0.845 | D | 0.506 | neutral | None | None | None | None | I |
| A/K | 0.8878 | likely_pathogenic | 0.8832 | pathogenic | -1.006 | Destabilizing | 0.987 | D | 0.566 | neutral | None | None | None | None | I |
| A/L | 0.3521 | ambiguous | 0.3826 | ambiguous | -0.297 | Destabilizing | 0.033 | N | 0.289 | neutral | None | None | None | None | I |
| A/M | 0.4606 | ambiguous | 0.5132 | ambiguous | -0.342 | Destabilizing | 0.975 | D | 0.563 | neutral | None | None | None | None | I |
| A/N | 0.6978 | likely_pathogenic | 0.7287 | pathogenic | -0.7 | Destabilizing | 0.996 | D | 0.536 | neutral | None | None | None | None | I |
| A/P | 0.5229 | ambiguous | 0.5279 | ambiguous | -0.366 | Destabilizing | 0.994 | D | 0.551 | neutral | N | 0.465935183 | None | None | I |
| A/Q | 0.6879 | likely_pathogenic | 0.6887 | pathogenic | -0.885 | Destabilizing | 0.996 | D | 0.559 | neutral | None | None | None | None | I |
| A/R | 0.8089 | likely_pathogenic | 0.7869 | pathogenic | -0.595 | Destabilizing | 0.987 | D | 0.542 | neutral | None | None | None | None | I |
| A/S | 0.1576 | likely_benign | 0.1698 | benign | -0.972 | Destabilizing | 0.944 | D | 0.418 | neutral | N | 0.476842823 | None | None | I |
| A/T | 0.2082 | likely_benign | 0.2473 | benign | -0.953 | Destabilizing | 0.892 | D | 0.446 | neutral | N | 0.444114329 | None | None | I |
| A/V | 0.2784 | likely_benign | 0.3063 | benign | -0.366 | Destabilizing | 0.025 | N | 0.273 | neutral | N | 0.498604962 | None | None | I |
| A/W | 0.9378 | likely_pathogenic | 0.935 | pathogenic | -1.147 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | I |
| A/Y | 0.8379 | likely_pathogenic | 0.8433 | pathogenic | -0.758 | Destabilizing | 0.987 | D | 0.535 | neutral | None | None | None | None | I |
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.