Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6470 | 19633;19634;19635 | chr2:178728518;178728517;178728516 | chr2:179593245;179593244;179593243 |
| N2AB | 6153 | 18682;18683;18684 | chr2:178728518;178728517;178728516 | chr2:179593245;179593244;179593243 |
| N2A | 5226 | 15901;15902;15903 | chr2:178728518;178728517;178728516 | chr2:179593245;179593244;179593243 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | -1.95 | 0.81 | D | 0.787 | 0.677 | 0.793675322667 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| A/D | None | -1.95 | 0.81 | D | 0.787 | 0.677 | 0.793675322667 | gnomAD-4.0.0 | 6.85733E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16333E-05 | 0 |
| A/G | rs780014505  |
-1.549 | 0.379 | D | 0.605 | 0.407 | 0.336647302497 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/G | rs780014505 |
-1.549 | 0.379 | D | 0.605 | 0.407 | 0.336647302497 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs780014505 |
-1.549 | 0.379 | D | 0.605 | 0.407 | 0.336647302497 | gnomAD-4.0.0 | 1.24193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69831E-06 | 0 | 0 |
| A/S | rs2079777866 |
None | 0.016 | N | 0.37 | 0.16 | None | gnomAD-4.0.0 | 4.79822E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.35655E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs780014505 |
0.235 | 0.007 | N | 0.207 | 0.304 | 0.354822389136 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/V | rs780014505 |
0.235 | 0.007 | N | 0.207 | 0.304 | 0.354822389136 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| A/V | rs780014505 |
0.235 | 0.007 | N | 0.207 | 0.304 | 0.354822389136 | gnomAD-4.0.0 | 6.20965E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.64238E-06 | 0 | 1.60519E-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 | 0.5694 | likely_pathogenic | 0.6193 | pathogenic | -1.168 | Destabilizing | 0.992 | D | 0.699 | prob.neutral | None | None | None | None | N |
| A/D | 0.8622 | likely_pathogenic | 0.8557 | pathogenic | -1.474 | Destabilizing | 0.81 | D | 0.787 | deleterious | D | 0.544167194 | None | None | N |
| A/E | 0.8291 | likely_pathogenic | 0.8378 | pathogenic | -1.43 | Destabilizing | 0.617 | D | 0.76 | deleterious | None | None | None | None | N |
| A/F | 0.6376 | likely_pathogenic | 0.6498 | pathogenic | -1.012 | Destabilizing | 0.92 | D | 0.791 | deleterious | None | None | None | None | N |
| A/G | 0.3054 | likely_benign | 0.295 | benign | -1.375 | Destabilizing | 0.379 | N | 0.605 | neutral | D | 0.532024968 | None | None | N |
| A/H | 0.8832 | likely_pathogenic | 0.8999 | pathogenic | -1.577 | Destabilizing | 0.992 | D | 0.756 | deleterious | None | None | None | None | N |
| A/I | 0.3947 | ambiguous | 0.4158 | ambiguous | -0.221 | Destabilizing | 0.447 | N | 0.711 | prob.delet. | None | None | None | None | N |
| A/K | 0.9309 | likely_pathogenic | 0.9355 | pathogenic | -1.132 | Destabilizing | 0.617 | D | 0.758 | deleterious | None | None | None | None | N |
| A/L | 0.4146 | ambiguous | 0.4601 | ambiguous | -0.221 | Destabilizing | 0.25 | N | 0.647 | neutral | None | None | None | None | N |
| A/M | 0.4118 | ambiguous | 0.4408 | ambiguous | -0.283 | Destabilizing | 0.92 | D | 0.769 | deleterious | None | None | None | None | N |
| A/N | 0.7232 | likely_pathogenic | 0.7478 | pathogenic | -1.04 | Destabilizing | 0.85 | D | 0.783 | deleterious | None | None | None | None | N |
| A/P | 0.9712 | likely_pathogenic | 0.9716 | pathogenic | -0.45 | Destabilizing | 0.896 | D | 0.791 | deleterious | D | 0.526062939 | None | None | N |
| A/Q | 0.8419 | likely_pathogenic | 0.8573 | pathogenic | -1.102 | Destabilizing | 0.92 | D | 0.798 | deleterious | None | None | None | None | N |
| A/R | 0.8749 | likely_pathogenic | 0.8749 | pathogenic | -0.956 | Destabilizing | 0.85 | D | 0.787 | deleterious | None | None | None | None | N |
| A/S | 0.1499 | likely_benign | 0.1513 | benign | -1.491 | Destabilizing | 0.016 | N | 0.37 | neutral | N | 0.491625174 | None | None | N |
| A/T | 0.1063 | likely_benign | 0.1097 | benign | -1.334 | Destabilizing | 0.004 | N | 0.406 | neutral | N | 0.497853679 | None | None | N |
| A/V | 0.1833 | likely_benign | 0.1974 | benign | -0.45 | Destabilizing | 0.007 | N | 0.207 | neutral | N | 0.464546395 | None | None | N |
| A/W | 0.9487 | likely_pathogenic | 0.9601 | pathogenic | -1.456 | Destabilizing | 0.992 | D | 0.79 | deleterious | None | None | None | None | N |
| A/Y | 0.7991 | likely_pathogenic | 0.8223 | pathogenic | -0.994 | Destabilizing | 0.972 | D | 0.771 | 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.