Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16443 | 49552;49553;49554 | chr2:178614070;178614069;178614068 | chr2:179478797;179478796;179478795 |
| N2AB | 14802 | 44629;44630;44631 | chr2:178614070;178614069;178614068 | chr2:179478797;179478796;179478795 |
| N2A | 13875 | 41848;41849;41850 | chr2:178614070;178614069;178614068 | chr2:179478797;179478796;179478795 |
| N2B | 7378 | 22357;22358;22359 | chr2:178614070;178614069;178614068 | chr2:179478797;179478796;179478795 |
| Novex-1 | 7503 | 22732;22733;22734 | chr2:178614070;178614069;178614068 | chr2:179478797;179478796;179478795 |
| Novex-2 | 7570 | 22933;22934;22935 | chr2:178614070;178614069;178614068 | chr2:179478797;179478796;179478795 |
| 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/A | rs1200322239  |
-0.686 | 0.002 | N | 0.279 | 0.062 | 0.183819452728 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/A | rs1200322239 |
-0.686 | 0.002 | N | 0.279 | 0.062 | 0.183819452728 | gnomAD-4.0.0 | 4.79359E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29918E-06 | 0 | 0 |
| T/I | None | None | None | N | 0.171 | 0.098 | 0.0611884634855 | gnomAD-4.0.0 | 1.59478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.42014E-04 | 0 | 0 | 0 |
| T/R | rs1343316485 |
-0.203 | 0.162 | N | 0.485 | 0.079 | 0.167679373172 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| T/R | rs1343316485 |
-0.203 | 0.162 | N | 0.485 | 0.079 | 0.167679373172 | gnomAD-4.0.0 | 4.78434E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58826E-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 | 0.0887 | likely_benign | 0.0876 | benign | -0.815 | Destabilizing | 0.002 | N | 0.279 | neutral | N | 0.462309237 | None | None | N |
| T/C | 0.245 | likely_benign | 0.2565 | benign | -0.583 | Destabilizing | 0.439 | N | 0.352 | neutral | None | None | None | None | N |
| T/D | 0.5031 | ambiguous | 0.4948 | ambiguous | -0.282 | Destabilizing | 0.068 | N | 0.501 | neutral | None | None | None | None | N |
| T/E | 0.2879 | likely_benign | 0.2752 | benign | -0.273 | Destabilizing | 0.068 | N | 0.515 | neutral | None | None | None | None | N |
| T/F | 0.1469 | likely_benign | 0.1529 | benign | -0.837 | Destabilizing | 0.035 | N | 0.527 | neutral | None | None | None | None | N |
| T/G | 0.3673 | ambiguous | 0.3628 | ambiguous | -1.085 | Destabilizing | 0.068 | N | 0.495 | neutral | None | None | None | None | N |
| T/H | 0.2171 | likely_benign | 0.2216 | benign | -1.33 | Destabilizing | 0.747 | D | 0.431 | neutral | None | None | None | None | N |
| T/I | 0.0493 | likely_benign | 0.0521 | benign | -0.186 | Destabilizing | None | N | 0.171 | neutral | N | 0.311300584 | None | None | N |
| T/K | 0.1636 | likely_benign | 0.1504 | benign | -0.805 | Destabilizing | 0.052 | N | 0.529 | neutral | N | 0.447892748 | None | None | N |
| T/L | 0.0512 | likely_benign | 0.0531 | benign | -0.186 | Destabilizing | None | N | 0.361 | neutral | None | None | None | None | N |
| T/M | 0.0612 | likely_benign | 0.0642 | benign | 0.05 | Stabilizing | 0.112 | N | 0.419 | neutral | None | None | None | None | N |
| T/N | 0.1485 | likely_benign | 0.1527 | benign | -0.787 | Destabilizing | 0.439 | N | 0.362 | neutral | None | None | None | None | N |
| T/P | 0.2237 | likely_benign | 0.2117 | benign | -0.363 | Destabilizing | 0.371 | N | 0.512 | neutral | N | 0.463796662 | None | None | N |
| T/Q | 0.1879 | likely_benign | 0.1795 | benign | -0.929 | Destabilizing | 0.439 | N | 0.402 | neutral | None | None | None | None | N |
| T/R | 0.1444 | likely_benign | 0.1349 | benign | -0.568 | Destabilizing | 0.162 | N | 0.485 | neutral | N | 0.448029732 | None | None | N |
| T/S | 0.1405 | likely_benign | 0.141 | benign | -1.066 | Destabilizing | 0.022 | N | 0.365 | neutral | N | 0.460330751 | None | None | N |
| T/V | 0.0489 | likely_benign | 0.049 | benign | -0.363 | Destabilizing | None | N | 0.089 | neutral | None | None | None | None | N |
| T/W | 0.4905 | ambiguous | 0.5019 | ambiguous | -0.772 | Destabilizing | 0.747 | D | 0.535 | neutral | None | None | None | None | N |
| T/Y | 0.2116 | likely_benign | 0.2142 | benign | -0.543 | Destabilizing | 0.204 | N | 0.541 | 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.