Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16106 | 48541;48542;48543 | chr2:178615785;178615784;178615783 | chr2:179480512;179480511;179480510 |
| N2AB | 14465 | 43618;43619;43620 | chr2:178615785;178615784;178615783 | chr2:179480512;179480511;179480510 |
| N2A | 13538 | 40837;40838;40839 | chr2:178615785;178615784;178615783 | chr2:179480512;179480511;179480510 |
| N2B | 7041 | 21346;21347;21348 | chr2:178615785;178615784;178615783 | chr2:179480512;179480511;179480510 |
| Novex-1 | 7166 | 21721;21722;21723 | chr2:178615785;178615784;178615783 | chr2:179480512;179480511;179480510 |
| Novex-2 | 7233 | 21922;21923;21924 | chr2:178615785;178615784;178615783 | chr2:179480512;179480511;179480510 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs762621076  |
-0.481 | None | N | 0.098 | 0.098 | 0.0846915920261 | gnomAD-2.1.1 | 8.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| M/I | rs762621076 |
-0.481 | None | N | 0.098 | 0.098 | 0.0846915920261 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/I | rs762621076 |
-0.481 | None | N | 0.098 | 0.098 | 0.0846915920261 | gnomAD-4.0.0 | 1.03064E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.92276E-05 | 0 | 0 |
| M/T | None | None | None | N | 0.183 | 0.118 | 0.570372710236 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1579 | likely_benign | 0.2025 | benign | -1.778 | Destabilizing | None | N | 0.191 | neutral | None | None | None | None | N |
| M/C | 0.499 | ambiguous | 0.5698 | pathogenic | -1.507 | Destabilizing | 0.628 | D | 0.417 | neutral | None | None | None | None | N |
| M/D | 0.608 | likely_pathogenic | 0.6996 | pathogenic | -0.524 | Destabilizing | 0.072 | N | 0.496 | neutral | None | None | None | None | N |
| M/E | 0.3189 | likely_benign | 0.3916 | ambiguous | -0.429 | Destabilizing | 0.072 | N | 0.409 | neutral | None | None | None | None | N |
| M/F | 0.3199 | likely_benign | 0.3531 | ambiguous | -0.558 | Destabilizing | 0.072 | N | 0.274 | neutral | None | None | None | None | N |
| M/G | 0.3728 | ambiguous | 0.4685 | ambiguous | -2.15 | Highly Destabilizing | 0.031 | N | 0.391 | neutral | None | None | None | None | N |
| M/H | 0.3727 | ambiguous | 0.4786 | ambiguous | -1.138 | Destabilizing | 0.628 | D | 0.456 | neutral | None | None | None | None | N |
| M/I | 0.2056 | likely_benign | 0.2703 | benign | -0.787 | Destabilizing | None | N | 0.098 | neutral | N | 0.436543611 | None | None | N |
| M/K | 0.1148 | likely_benign | 0.1688 | benign | -0.687 | Destabilizing | 0.055 | N | 0.395 | neutral | N | 0.42040486 | None | None | N |
| M/L | 0.1186 | likely_benign | 0.1448 | benign | -0.787 | Destabilizing | 0.001 | N | 0.179 | neutral | N | 0.433505371 | None | None | N |
| M/N | 0.288 | likely_benign | 0.3886 | ambiguous | -0.751 | Destabilizing | 0.072 | N | 0.518 | neutral | None | None | None | None | N |
| M/P | 0.8252 | likely_pathogenic | 0.8878 | pathogenic | -1.092 | Destabilizing | 0.136 | N | 0.529 | neutral | None | None | None | None | N |
| M/Q | 0.166 | likely_benign | 0.2045 | benign | -0.695 | Destabilizing | 0.136 | N | 0.358 | neutral | None | None | None | None | N |
| M/R | 0.1359 | likely_benign | 0.1956 | benign | -0.314 | Destabilizing | 0.106 | N | 0.483 | neutral | N | 0.467139548 | None | None | N |
| M/S | 0.1864 | likely_benign | 0.2364 | benign | -1.409 | Destabilizing | 0.016 | N | 0.377 | neutral | None | None | None | None | N |
| M/T | 0.0885 | likely_benign | 0.1153 | benign | -1.186 | Destabilizing | None | N | 0.183 | neutral | N | 0.386116011 | None | None | N |
| M/V | 0.0842 | likely_benign | 0.1065 | benign | -1.092 | Destabilizing | None | N | 0.1 | neutral | N | 0.411143743 | None | None | N |
| M/W | 0.6024 | likely_pathogenic | 0.6742 | pathogenic | -0.555 | Destabilizing | 0.864 | D | 0.392 | neutral | None | None | None | None | N |
| M/Y | 0.5606 | ambiguous | 0.6361 | pathogenic | -0.577 | Destabilizing | 0.136 | N | 0.523 | 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.