Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 154 | 685;686;687 | chr2:178800518;178800517;178800516 | chr2:179665245;179665244;179665243 |
| N2AB | 154 | 685;686;687 | chr2:178800518;178800517;178800516 | chr2:179665245;179665244;179665243 |
| N2A | 154 | 685;686;687 | chr2:178800518;178800517;178800516 | chr2:179665245;179665244;179665243 |
| N2B | 154 | 685;686;687 | chr2:178800518;178800517;178800516 | chr2:179665245;179665244;179665243 |
| Novex-1 | 154 | 685;686;687 | chr2:178800518;178800517;178800516 | chr2:179665245;179665244;179665243 |
| Novex-2 | 154 | 685;686;687 | chr2:178800518;178800517;178800516 | chr2:179665245;179665244;179665243 |
| Novex-3 | 154 | 685;686;687 | chr2:178800518;178800517;178800516 | chr2:179665245;179665244;179665243 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | None | None | 0.744 | N | 0.583 | 0.391 | 0.285698343383 | gnomAD-4.0.0 | 1.59044E-06 | None | None | None | -0.276(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.456 | ambiguous | 0.4732 | ambiguous | -0.489 | Destabilizing | 0.906 | D | 0.621 | neutral | None | None | None | -0.229(TCAP) | N |
| Q/C | 0.959 | likely_pathogenic | 0.9555 | pathogenic | 0.029 | Stabilizing | 0.996 | D | 0.761 | deleterious | None | None | None | -0.269(TCAP) | N |
| Q/D | 0.8296 | likely_pathogenic | 0.8428 | pathogenic | 0.252 | Stabilizing | 0.744 | D | 0.625 | neutral | None | None | None | -0.074(TCAP) | N |
| Q/E | 0.1477 | likely_benign | 0.1409 | benign | 0.257 | Stabilizing | 0.556 | D | 0.508 | neutral | N | 0.387113951 | None | -0.183(TCAP) | N |
| Q/F | 0.9524 | likely_pathogenic | 0.9562 | pathogenic | -0.603 | Destabilizing | 0.975 | D | 0.752 | deleterious | None | None | None | -0.954(TCAP) | N |
| Q/G | 0.6343 | likely_pathogenic | 0.6441 | pathogenic | -0.707 | Destabilizing | 0.906 | D | 0.695 | prob.neutral | None | None | None | -0.212(TCAP) | N |
| Q/H | 0.5854 | likely_pathogenic | 0.6001 | pathogenic | -0.483 | Destabilizing | 0.021 | N | 0.283 | neutral | N | 0.42963406 | None | 0.231(TCAP) | N |
| Q/I | 0.8016 | likely_pathogenic | 0.8141 | pathogenic | 0.006 | Stabilizing | 0.965 | D | 0.746 | deleterious | None | None | None | -0.314(TCAP) | N |
| Q/K | 0.1674 | likely_benign | 0.1618 | benign | 0.057 | Stabilizing | 0.744 | D | 0.583 | neutral | N | 0.483089017 | None | -0.276(TCAP) | N |
| Q/L | 0.4715 | ambiguous | 0.4764 | ambiguous | 0.006 | Stabilizing | 0.744 | D | 0.678 | prob.neutral | N | 0.484816441 | None | -0.314(TCAP) | N |
| Q/M | 0.708 | likely_pathogenic | 0.7062 | pathogenic | 0.25 | Stabilizing | 0.988 | D | 0.647 | neutral | None | None | None | 0.325(TCAP) | N |
| Q/N | 0.692 | likely_pathogenic | 0.7193 | pathogenic | -0.414 | Destabilizing | 0.744 | D | 0.624 | neutral | None | None | None | -0.571(TCAP) | N |
| Q/P | 0.7181 | likely_pathogenic | 0.7098 | pathogenic | -0.13 | Destabilizing | 0.979 | D | 0.675 | prob.neutral | N | 0.461235397 | None | -0.28(TCAP) | N |
| Q/R | 0.1753 | likely_benign | 0.1749 | benign | 0.189 | Stabilizing | 0.656 | D | 0.635 | neutral | N | 0.464736133 | None | -0.1(TCAP) | N |
| Q/S | 0.5166 | ambiguous | 0.542 | ambiguous | -0.459 | Destabilizing | 0.906 | D | 0.603 | neutral | None | None | None | -0.445(TCAP) | N |
| Q/T | 0.4666 | ambiguous | 0.4873 | ambiguous | -0.275 | Destabilizing | 0.432 | N | 0.628 | neutral | None | None | None | -0.503(TCAP) | N |
| Q/V | 0.5979 | likely_pathogenic | 0.6091 | pathogenic | -0.13 | Destabilizing | 0.892 | D | 0.679 | prob.neutral | None | None | None | -0.28(TCAP) | N |
| Q/W | 0.9088 | likely_pathogenic | 0.9039 | pathogenic | -0.513 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | -1.259(TCAP) | N |
| Q/Y | 0.8864 | likely_pathogenic | 0.8916 | pathogenic | -0.28 | Destabilizing | 0.95 | D | 0.667 | neutral | None | None | None | -0.905(TCAP) | 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.