Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19915 | 59968;59969;59970 | chr2:178592161;178592160;178592159 | chr2:179456888;179456887;179456886 |
| N2AB | 18274 | 55045;55046;55047 | chr2:178592161;178592160;178592159 | chr2:179456888;179456887;179456886 |
| N2A | 17347 | 52264;52265;52266 | chr2:178592161;178592160;178592159 | chr2:179456888;179456887;179456886 |
| N2B | 10850 | 32773;32774;32775 | chr2:178592161;178592160;178592159 | chr2:179456888;179456887;179456886 |
| Novex-1 | 10975 | 33148;33149;33150 | chr2:178592161;178592160;178592159 | chr2:179456888;179456887;179456886 |
| Novex-2 | 11042 | 33349;33350;33351 | chr2:178592161;178592160;178592159 | chr2:179456888;179456887;179456886 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs1278035797  |
-1.505 | 0.999 | N | 0.666 | 0.255 | 0.278143212241 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/D | rs1278035797 |
-1.505 | 0.999 | N | 0.666 | 0.255 | 0.278143212241 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 5.89777E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/D | rs1278035797 |
-1.505 | 0.999 | N | 0.666 | 0.255 | 0.278143212241 | gnomAD-4.0.0 | 1.28258E-05 | None | None | None | None | N | None | 0 | 1.69745E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1310177568 |
None | 1.0 | N | 0.759 | 0.369 | 0.267299060538 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1310177568 |
None | 1.0 | N | 0.759 | 0.369 | 0.267299060538 | gnomAD-4.0.0 | 6.57938E-06 | None | None | None | None | N | None | 2.41429E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7585 | likely_pathogenic | 0.7577 | pathogenic | -1.288 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | D | 0.52284762 | None | None | N |
| E/C | 0.9641 | likely_pathogenic | 0.9606 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/D | 0.4991 | ambiguous | 0.5382 | ambiguous | -1.378 | Destabilizing | 0.999 | D | 0.666 | neutral | N | 0.477511304 | None | None | N |
| E/F | 0.9514 | likely_pathogenic | 0.9523 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/G | 0.8511 | likely_pathogenic | 0.8545 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.517874097 | None | None | N |
| E/H | 0.8958 | likely_pathogenic | 0.876 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| E/I | 0.9296 | likely_pathogenic | 0.932 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/K | 0.8774 | likely_pathogenic | 0.877 | pathogenic | -0.801 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.482244564 | None | None | N |
| E/L | 0.9053 | likely_pathogenic | 0.9053 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| E/M | 0.8537 | likely_pathogenic | 0.8568 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| E/N | 0.8744 | likely_pathogenic | 0.8873 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| E/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| E/Q | 0.3581 | ambiguous | 0.3364 | benign | -0.724 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.495527371 | None | None | N |
| E/R | 0.9205 | likely_pathogenic | 0.9219 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| E/S | 0.7457 | likely_pathogenic | 0.7526 | pathogenic | -1.629 | Destabilizing | 0.999 | D | 0.75 | deleterious | None | None | None | None | N |
| E/T | 0.8755 | likely_pathogenic | 0.8909 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| E/V | 0.8338 | likely_pathogenic | 0.8417 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.523608089 | None | None | N |
| E/W | 0.9828 | likely_pathogenic | 0.9818 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| E/Y | 0.9352 | likely_pathogenic | 0.9342 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.772 | deleterious | 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.