Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27814 | 83665;83666;83667 | chr2:178562692;178562691;178562690 | chr2:179427419;179427418;179427417 |
| N2AB | 26173 | 78742;78743;78744 | chr2:178562692;178562691;178562690 | chr2:179427419;179427418;179427417 |
| N2A | 25246 | 75961;75962;75963 | chr2:178562692;178562691;178562690 | chr2:179427419;179427418;179427417 |
| N2B | 18749 | 56470;56471;56472 | chr2:178562692;178562691;178562690 | chr2:179427419;179427418;179427417 |
| Novex-1 | 18874 | 56845;56846;56847 | chr2:178562692;178562691;178562690 | chr2:179427419;179427418;179427417 |
| Novex-2 | 18941 | 57046;57047;57048 | chr2:178562692;178562691;178562690 | chr2:179427419;179427418;179427417 |
| 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 | rs769623982  |
-0.069 | 0.884 | N | 0.41 | 0.366 | 0.568180043242 | gnomAD-2.1.1 | 8.5E-06 | None | None | None | None | N | None | 0 | 6.25E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/D | rs769623982 |
-0.069 | 0.884 | N | 0.41 | 0.366 | 0.568180043242 | gnomAD-4.0.0 | 2.0775E-06 | None | None | None | None | N | None | 0 | 4.79157E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.21139E-05 | 0 |
| A/G | None | None | 0.521 | N | 0.416 | 0.254 | 0.432716982437 | gnomAD-4.0.0 | 6.92501E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.05287E-07 | 0 | 0 |
| A/P | rs772828081 |
-0.027 | 0.939 | N | 0.41 | 0.287 | 0.481616744073 | gnomAD-2.1.1 | 8.5E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.84E-05 | 0 |
| A/P | rs772828081 |
-0.027 | 0.939 | N | 0.41 | 0.287 | 0.481616744073 | gnomAD-4.0.0 | 4.1551E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.43179E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5609 | ambiguous | 0.5376 | ambiguous | -0.819 | Destabilizing | 0.996 | D | 0.429 | neutral | None | None | None | None | N |
| A/D | 0.8077 | likely_pathogenic | 0.857 | pathogenic | -0.884 | Destabilizing | 0.884 | D | 0.41 | neutral | N | 0.485561094 | None | None | N |
| A/E | 0.731 | likely_pathogenic | 0.8001 | pathogenic | -0.984 | Destabilizing | 0.742 | D | 0.361 | neutral | None | None | None | None | N |
| A/F | 0.5763 | likely_pathogenic | 0.5827 | pathogenic | -1.058 | Destabilizing | 0.953 | D | 0.441 | neutral | None | None | None | None | N |
| A/G | 0.2401 | likely_benign | 0.2216 | benign | -0.935 | Destabilizing | 0.521 | D | 0.416 | neutral | N | 0.5067258 | None | None | N |
| A/H | 0.7506 | likely_pathogenic | 0.7729 | pathogenic | -0.939 | Destabilizing | 0.996 | D | 0.435 | neutral | None | None | None | None | N |
| A/I | 0.3497 | ambiguous | 0.3627 | ambiguous | -0.527 | Destabilizing | 0.59 | D | 0.37 | neutral | None | None | None | None | N |
| A/K | 0.8745 | likely_pathogenic | 0.901 | pathogenic | -1.068 | Destabilizing | 0.742 | D | 0.363 | neutral | None | None | None | None | N |
| A/L | 0.2706 | likely_benign | 0.2637 | benign | -0.527 | Destabilizing | 0.59 | D | 0.405 | neutral | None | None | None | None | N |
| A/M | 0.2869 | likely_benign | 0.2814 | benign | -0.456 | Destabilizing | 0.953 | D | 0.416 | neutral | None | None | None | None | N |
| A/N | 0.4371 | ambiguous | 0.4171 | ambiguous | -0.731 | Destabilizing | 0.91 | D | 0.41 | neutral | None | None | None | None | N |
| A/P | 0.9367 | likely_pathogenic | 0.9377 | pathogenic | -0.572 | Destabilizing | 0.939 | D | 0.41 | neutral | N | 0.477471624 | None | None | N |
| A/Q | 0.5937 | likely_pathogenic | 0.615 | pathogenic | -0.989 | Destabilizing | 0.91 | D | 0.436 | neutral | None | None | None | None | N |
| A/R | 0.8353 | likely_pathogenic | 0.8732 | pathogenic | -0.574 | Destabilizing | 0.91 | D | 0.43 | neutral | None | None | None | None | N |
| A/S | 0.1039 | likely_benign | 0.0977 | benign | -1.003 | Destabilizing | 0.028 | N | 0.211 | neutral | N | 0.40710031 | None | None | N |
| A/T | 0.0887 | likely_benign | 0.086 | benign | -1.023 | Destabilizing | 0.012 | N | 0.114 | neutral | N | 0.391669498 | None | None | N |
| A/V | 0.1633 | likely_benign | 0.1678 | benign | -0.572 | Destabilizing | 0.028 | N | 0.204 | neutral | N | 0.433342762 | None | None | N |
| A/W | 0.9432 | likely_pathogenic | 0.9445 | pathogenic | -1.258 | Destabilizing | 0.996 | D | 0.571 | neutral | None | None | None | None | N |
| A/Y | 0.7481 | likely_pathogenic | 0.7576 | pathogenic | -0.914 | Destabilizing | 0.984 | D | 0.433 | 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.