Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30507 | 91744;91745;91746 | chr2:178551012;178551011;178551010 | chr2:179415739;179415738;179415737 |
| N2AB | 28866 | 86821;86822;86823 | chr2:178551012;178551011;178551010 | chr2:179415739;179415738;179415737 |
| N2A | 27939 | 84040;84041;84042 | chr2:178551012;178551011;178551010 | chr2:179415739;179415738;179415737 |
| N2B | 21442 | 64549;64550;64551 | chr2:178551012;178551011;178551010 | chr2:179415739;179415738;179415737 |
| Novex-1 | 21567 | 64924;64925;64926 | chr2:178551012;178551011;178551010 | chr2:179415739;179415738;179415737 |
| Novex-2 | 21634 | 65125;65126;65127 | chr2:178551012;178551011;178551010 | chr2:179415739;179415738;179415737 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs774107448  |
-0.707 | 1.0 | N | 0.83 | 0.396 | 0.683250482097 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| P/L | rs774107448 |
-0.707 | 1.0 | N | 0.83 | 0.396 | 0.683250482097 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| P/L | rs774107448 |
-0.707 | 1.0 | N | 0.83 | 0.396 | 0.683250482097 | gnomAD-4.0.0 | 1.61183E-05 | None | None | None | None | N | None | 8.0156E-05 | 6.67245E-05 | None | 0 | 0 | None | 0 | 1.64528E-04 | 1.18687E-05 | 0 | 1.60195E-05 |
| P/T | None | None | 1.0 | N | 0.822 | 0.38 | 0.455909487837 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1112 | likely_benign | 0.1085 | benign | -1.205 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.472306582 | None | None | N |
| P/C | 0.6753 | likely_pathogenic | 0.6483 | pathogenic | -0.803 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/D | 0.7789 | likely_pathogenic | 0.7213 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/E | 0.4778 | ambiguous | 0.4311 | ambiguous | -0.966 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/F | 0.605 | likely_pathogenic | 0.5775 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/G | 0.4939 | ambiguous | 0.4832 | ambiguous | -1.439 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/H | 0.3516 | ambiguous | 0.3248 | benign | -0.912 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/I | 0.3706 | ambiguous | 0.3241 | benign | -0.697 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/K | 0.51 | ambiguous | 0.4373 | ambiguous | -0.999 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.1405 | likely_benign | 0.134 | benign | -0.697 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.470287784 | None | None | N |
| P/M | 0.3379 | likely_benign | 0.3103 | benign | -0.506 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/N | 0.509 | ambiguous | 0.4717 | ambiguous | -0.706 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/Q | 0.226 | likely_benign | 0.2121 | benign | -0.959 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.473288017 | None | None | N |
| P/R | 0.3785 | ambiguous | 0.3417 | ambiguous | -0.39 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.463225739 | None | None | N |
| P/S | 0.197 | likely_benign | 0.1863 | benign | -1.162 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.501013336 | None | None | N |
| P/T | 0.1944 | likely_benign | 0.1715 | benign | -1.128 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.48350501 | None | None | N |
| P/V | 0.2574 | likely_benign | 0.2282 | benign | -0.831 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/W | 0.8255 | likely_pathogenic | 0.8044 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| P/Y | 0.5893 | likely_pathogenic | 0.5532 | ambiguous | -0.917 | Destabilizing | 1.0 | D | 0.813 | 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.