Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22136 | 66631;66632;66633 | chr2:178581963;178581962;178581961 | chr2:179446690;179446689;179446688 |
| N2AB | 20495 | 61708;61709;61710 | chr2:178581963;178581962;178581961 | chr2:179446690;179446689;179446688 |
| N2A | 19568 | 58927;58928;58929 | chr2:178581963;178581962;178581961 | chr2:179446690;179446689;179446688 |
| N2B | 13071 | 39436;39437;39438 | chr2:178581963;178581962;178581961 | chr2:179446690;179446689;179446688 |
| Novex-1 | 13196 | 39811;39812;39813 | chr2:178581963;178581962;178581961 | chr2:179446690;179446689;179446688 |
| Novex-2 | 13263 | 40012;40013;40014 | chr2:178581963;178581962;178581961 | chr2:179446690;179446689;179446688 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs767451470  |
-1.323 | 0.998 | N | 0.839 | 0.435 | 0.503186968135 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.45E-05 | 0 |
| A/D | rs767451470 |
-1.323 | 0.998 | N | 0.839 | 0.435 | 0.503186968135 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | rs767451470 |
-1.323 | 0.998 | N | 0.839 | 0.435 | 0.503186968135 | gnomAD-4.0.0 | 7.43893E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32599E-06 | 0 | 1.6019E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7457 | likely_pathogenic | 0.687 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/D | 0.9712 | likely_pathogenic | 0.9502 | pathogenic | -0.729 | Destabilizing | 0.998 | D | 0.839 | deleterious | N | 0.486612657 | None | None | N |
| A/E | 0.9432 | likely_pathogenic | 0.9012 | pathogenic | -0.886 | Destabilizing | 0.995 | D | 0.814 | deleterious | None | None | None | None | N |
| A/F | 0.81 | likely_pathogenic | 0.7409 | pathogenic | -0.964 | Destabilizing | 0.991 | D | 0.856 | deleterious | None | None | None | None | N |
| A/G | 0.4367 | ambiguous | 0.3834 | ambiguous | -0.419 | Destabilizing | 0.979 | D | 0.669 | neutral | N | 0.474647241 | None | None | N |
| A/H | 0.9391 | likely_pathogenic | 0.9121 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/I | 0.5873 | likely_pathogenic | 0.5283 | ambiguous | -0.457 | Destabilizing | 0.938 | D | 0.755 | deleterious | None | None | None | None | N |
| A/K | 0.9779 | likely_pathogenic | 0.9568 | pathogenic | -0.789 | Destabilizing | 0.995 | D | 0.814 | deleterious | None | None | None | None | N |
| A/L | 0.6943 | likely_pathogenic | 0.6271 | pathogenic | -0.457 | Destabilizing | 0.938 | D | 0.605 | neutral | None | None | None | None | N |
| A/M | 0.6752 | likely_pathogenic | 0.5963 | pathogenic | -0.504 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| A/N | 0.8827 | likely_pathogenic | 0.8388 | pathogenic | -0.464 | Destabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| A/P | 0.976 | likely_pathogenic | 0.9719 | pathogenic | -0.398 | Destabilizing | 0.998 | D | 0.838 | deleterious | D | 0.52920395 | None | None | N |
| A/Q | 0.9138 | likely_pathogenic | 0.862 | pathogenic | -0.772 | Destabilizing | 0.998 | D | 0.847 | deleterious | None | None | None | None | N |
| A/R | 0.9453 | likely_pathogenic | 0.9052 | pathogenic | -0.237 | Destabilizing | 0.995 | D | 0.849 | deleterious | None | None | None | None | N |
| A/S | 0.2758 | likely_benign | 0.2524 | benign | -0.637 | Destabilizing | 0.979 | D | 0.671 | neutral | N | 0.478156414 | None | None | N |
| A/T | 0.5598 | ambiguous | 0.4528 | ambiguous | -0.72 | Destabilizing | 0.958 | D | 0.797 | deleterious | N | 0.510085737 | None | None | N |
| A/V | 0.3343 | likely_benign | 0.2732 | benign | -0.398 | Destabilizing | 0.142 | N | 0.457 | neutral | N | 0.477037611 | None | None | N |
| A/W | 0.9773 | likely_pathogenic | 0.9661 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.9063 | likely_pathogenic | 0.8568 | pathogenic | -0.759 | Destabilizing | 0.995 | D | 0.859 | 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.