Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9433 | 28522;28523;28524 | chr2:178710800;178710799;178710798 | chr2:179575527;179575526;179575525 |
| N2AB | 9116 | 27571;27572;27573 | chr2:178710800;178710799;178710798 | chr2:179575527;179575526;179575525 |
| N2A | 8189 | 24790;24791;24792 | chr2:178710800;178710799;178710798 | chr2:179575527;179575526;179575525 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs372608982  |
-0.401 | 0.977 | None | 0.439 | 0.206 | 0.226586394389 | gnomAD-2.1.1 | 4.82E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 1.77E-05 | 8.26446E-04 |
| D/E | rs372608982 |
-0.401 | 0.977 | None | 0.439 | 0.206 | 0.226586394389 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 2.62089E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78469E-04 |
| D/E | rs372608982 |
-0.401 | 0.977 | None | 0.439 | 0.206 | 0.226586394389 | gnomAD-4.0.0 | 2.29276E-05 | None | None | None | None | N | None | 0 | 8.33639E-05 | None | 0 | 0 | None | 0 | 8.21828E-04 | 1.52563E-05 | 6.58704E-05 | 4.80277E-05 |
| D/G | rs1441669143 |
None | 0.955 | None | 0.634 | 0.394 | 0.26169431596 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs1441669143 |
None | 0.955 | None | 0.634 | 0.394 | 0.26169431596 | gnomAD-4.0.0 | 6.57091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 0 | 0 |
| D/H | rs781329594 |
-0.634 | 0.999 | None | 0.705 | 0.428 | 0.363944505237 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs781329594 |
-0.634 | 0.999 | None | 0.705 | 0.428 | 0.363944505237 | gnomAD-4.0.0 | 1.59099E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5714 | likely_pathogenic | 0.6798 | pathogenic | -0.651 | Destabilizing | 0.993 | D | 0.657 | neutral | None | None | None | None | N |
| D/C | 0.9299 | likely_pathogenic | 0.9559 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/E | 0.4045 | ambiguous | 0.5337 | ambiguous | -0.463 | Destabilizing | 0.977 | D | 0.439 | neutral | None | None | None | None | N |
| D/F | 0.8965 | likely_pathogenic | 0.9411 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/G | 0.2935 | likely_benign | 0.3451 | ambiguous | -0.918 | Destabilizing | 0.955 | D | 0.634 | neutral | None | None | None | None | N |
| D/H | 0.753 | likely_pathogenic | 0.8414 | pathogenic | -0.328 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/I | 0.8905 | likely_pathogenic | 0.9462 | pathogenic | 0.03 | Stabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| D/K | 0.8473 | likely_pathogenic | 0.9112 | pathogenic | -0.042 | Destabilizing | 0.995 | D | 0.685 | prob.neutral | None | None | None | None | N |
| D/L | 0.838 | likely_pathogenic | 0.8996 | pathogenic | 0.03 | Stabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/M | 0.9367 | likely_pathogenic | 0.9695 | pathogenic | 0.326 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/N | 0.1691 | likely_benign | 0.2164 | benign | -0.493 | Destabilizing | 0.235 | N | 0.329 | neutral | None | None | None | None | N |
| D/P | 0.9889 | likely_pathogenic | 0.9925 | pathogenic | -0.175 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/Q | 0.7598 | likely_pathogenic | 0.8675 | pathogenic | -0.412 | Destabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/R | 0.8521 | likely_pathogenic | 0.9085 | pathogenic | 0.181 | Stabilizing | 0.995 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/S | 0.3904 | ambiguous | 0.4934 | ambiguous | -0.637 | Destabilizing | 0.966 | D | 0.616 | neutral | None | None | None | None | N |
| D/T | 0.7804 | likely_pathogenic | 0.8814 | pathogenic | -0.417 | Destabilizing | 0.995 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/V | 0.7378 | likely_pathogenic | 0.8407 | pathogenic | -0.175 | Destabilizing | 0.997 | D | 0.714 | prob.delet. | None | None | None | None | N |
| D/W | 0.9774 | likely_pathogenic | 0.989 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/Y | 0.534 | ambiguous | 0.6648 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.706 | prob.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.