Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5779 | 17560;17561;17562 | chr2:178731431;178731430;178731429 | chr2:179596158;179596157;179596156 |
| N2AB | 5462 | 16609;16610;16611 | chr2:178731431;178731430;178731429 | chr2:179596158;179596157;179596156 |
| N2A | 4535 | 13828;13829;13830 | chr2:178731431;178731430;178731429 | chr2:179596158;179596157;179596156 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1407417738  |
0.141 | 0.004 | N | 0.247 | 0.175 | 0.332902724076 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs1407417738 |
0.141 | 0.004 | N | 0.247 | 0.175 | 0.332902724076 | gnomAD-4.0.0 | 3.42109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87273E-05 | 0 | 1.79892E-06 | 1.15934E-05 | 1.65678E-05 |
| T/P | rs771202533 |
-0.492 | 0.896 | N | 0.419 | 0.425 | 0.411133732114 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/P | rs771202533 |
-0.492 | 0.896 | N | 0.419 | 0.425 | 0.411133732114 | gnomAD-4.0.0 | 3.18262E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71638E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0891 | likely_benign | 0.0883 | benign | -0.769 | Destabilizing | 0.002 | N | 0.079 | neutral | N | 0.512510914 | None | None | N |
| T/C | 0.4568 | ambiguous | 0.4378 | ambiguous | -0.411 | Destabilizing | 0.977 | D | 0.429 | neutral | None | None | None | None | N |
| T/D | 0.372 | ambiguous | 0.3529 | ambiguous | -0.086 | Destabilizing | 0.617 | D | 0.364 | neutral | None | None | None | None | N |
| T/E | 0.3368 | likely_benign | 0.3103 | benign | -0.069 | Destabilizing | 0.617 | D | 0.384 | neutral | None | None | None | None | N |
| T/F | 0.2009 | likely_benign | 0.1982 | benign | -0.784 | Destabilizing | 0.85 | D | 0.513 | neutral | None | None | None | None | N |
| T/G | 0.2599 | likely_benign | 0.2691 | benign | -1.048 | Destabilizing | 0.25 | N | 0.444 | neutral | None | None | None | None | N |
| T/H | 0.2078 | likely_benign | 0.1963 | benign | -1.302 | Destabilizing | 0.012 | N | 0.367 | neutral | None | None | None | None | N |
| T/I | 0.1603 | likely_benign | 0.1463 | benign | -0.117 | Destabilizing | 0.004 | N | 0.247 | neutral | N | 0.484441665 | None | None | N |
| T/K | 0.2153 | likely_benign | 0.1967 | benign | -0.677 | Destabilizing | 0.617 | D | 0.355 | neutral | None | None | None | None | N |
| T/L | 0.1091 | likely_benign | 0.1065 | benign | -0.117 | Destabilizing | 0.25 | N | 0.375 | neutral | None | None | None | None | N |
| T/M | 0.0943 | likely_benign | 0.0926 | benign | 0.097 | Stabilizing | 0.85 | D | 0.439 | neutral | None | None | None | None | N |
| T/N | 0.1103 | likely_benign | 0.1066 | benign | -0.633 | Destabilizing | 0.549 | D | 0.313 | neutral | N | 0.485936727 | None | None | N |
| T/P | 0.6343 | likely_pathogenic | 0.6437 | pathogenic | -0.301 | Destabilizing | 0.896 | D | 0.419 | neutral | N | 0.493280561 | None | None | N |
| T/Q | 0.2338 | likely_benign | 0.2192 | benign | -0.728 | Destabilizing | 0.92 | D | 0.429 | neutral | None | None | None | None | N |
| T/R | 0.1711 | likely_benign | 0.1588 | benign | -0.505 | Destabilizing | 0.85 | D | 0.421 | neutral | None | None | None | None | N |
| T/S | 0.0947 | likely_benign | 0.0948 | benign | -0.918 | Destabilizing | 0.02 | N | 0.083 | neutral | N | 0.446536638 | None | None | N |
| T/V | 0.1407 | likely_benign | 0.133 | benign | -0.301 | Destabilizing | 0.25 | N | 0.336 | neutral | None | None | None | None | N |
| T/W | 0.5464 | ambiguous | 0.5526 | ambiguous | -0.749 | Destabilizing | 0.992 | D | 0.537 | neutral | None | None | None | None | N |
| T/Y | 0.2184 | likely_benign | 0.2126 | benign | -0.511 | Destabilizing | 0.85 | D | 0.512 | 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.