Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9066 | 27421;27422;27423 | chr2:178712829;178712828;178712827 | chr2:179577556;179577555;179577554 |
| N2AB | 8749 | 26470;26471;26472 | chr2:178712829;178712828;178712827 | chr2:179577556;179577555;179577554 |
| N2A | 7822 | 23689;23690;23691 | chr2:178712829;178712828;178712827 | chr2:179577556;179577555;179577554 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | None | None | 0.999 | N | 0.525 | 0.27 | 0.300449992093 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 0 | 0 |
| N/K | rs369529493  |
0.051 | 0.984 | N | 0.435 | 0.208 | 0.124217242631 | gnomAD-2.1.1 | 1.2876E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 2.66809E-04 | 1.65948E-04 |
| N/K | rs369529493 |
0.051 | 0.984 | N | 0.435 | 0.208 | 0.124217242631 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 1.47E-05 | 0 | 0 |
| N/K | rs369529493 |
0.051 | 0.984 | N | 0.435 | 0.208 | 0.124217242631 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52016E-05 | None | 0 | 0 | 8.99475E-07 | 0 | 0 |
| N/S | rs2076861008 |
None | 0.659 | N | 0.258 | 0.152 | 0.194818534648 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs2076861008 |
None | 0.659 | N | 0.258 | 0.152 | 0.194818534648 | gnomAD-4.0.0 | 3.09854E-06 | None | None | None | None | N | None | 1.33476E-05 | 1.66739E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.80369E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2159 | likely_benign | 0.1824 | benign | -0.909 | Destabilizing | 0.971 | D | 0.478 | neutral | None | None | None | None | N |
| N/C | 0.35 | ambiguous | 0.298 | benign | 0.034 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| N/D | 0.1476 | likely_benign | 0.1419 | benign | -0.093 | Destabilizing | 0.98 | D | 0.43 | neutral | N | 0.511529479 | None | None | N |
| N/E | 0.3218 | likely_benign | 0.3098 | benign | -0.042 | Destabilizing | 0.985 | D | 0.437 | neutral | None | None | None | None | N |
| N/F | 0.3913 | ambiguous | 0.3595 | ambiguous | -0.814 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | N |
| N/G | 0.3278 | likely_benign | 0.2865 | benign | -1.2 | Destabilizing | 0.985 | D | 0.438 | neutral | None | None | None | None | N |
| N/H | 0.0883 | likely_benign | 0.0846 | benign | -0.921 | Destabilizing | 0.999 | D | 0.525 | neutral | N | 0.484574951 | None | None | N |
| N/I | 0.1727 | likely_benign | 0.1583 | benign | -0.188 | Destabilizing | 0.997 | D | 0.708 | prob.delet. | N | 0.513030989 | None | None | N |
| N/K | 0.2256 | likely_benign | 0.2158 | benign | -0.144 | Destabilizing | 0.984 | D | 0.435 | neutral | N | 0.483956088 | None | None | N |
| N/L | 0.2051 | likely_benign | 0.1857 | benign | -0.188 | Destabilizing | 0.998 | D | 0.605 | neutral | None | None | None | None | N |
| N/M | 0.2837 | likely_benign | 0.2519 | benign | 0.285 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| N/P | 0.8488 | likely_pathogenic | 0.8505 | pathogenic | -0.4 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | None | None | None | None | N |
| N/Q | 0.2738 | likely_benign | 0.254 | benign | -0.723 | Destabilizing | 0.996 | D | 0.526 | neutral | None | None | None | None | N |
| N/R | 0.2064 | likely_benign | 0.1941 | benign | -0.09 | Destabilizing | 0.323 | N | 0.222 | neutral | None | None | None | None | N |
| N/S | 0.0774 | likely_benign | 0.0715 | benign | -0.709 | Destabilizing | 0.659 | D | 0.258 | neutral | N | 0.463986248 | None | None | N |
| N/T | 0.113 | likely_benign | 0.1004 | benign | -0.468 | Destabilizing | 0.961 | D | 0.42 | neutral | N | 0.46448768 | None | None | N |
| N/V | 0.192 | likely_benign | 0.1699 | benign | -0.4 | Destabilizing | 0.998 | D | 0.698 | prob.neutral | None | None | None | None | N |
| N/W | 0.6155 | likely_pathogenic | 0.6026 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| N/Y | 0.1288 | likely_benign | 0.1236 | benign | -0.374 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.494988855 | 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.