Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16082 | 48469;48470;48471 | chr2:178616547;178616546;178616545 | chr2:179481274;179481273;179481272 |
| N2AB | 14441 | 43546;43547;43548 | chr2:178616547;178616546;178616545 | chr2:179481274;179481273;179481272 |
| N2A | 13514 | 40765;40766;40767 | chr2:178616547;178616546;178616545 | chr2:179481274;179481273;179481272 |
| N2B | 7017 | 21274;21275;21276 | chr2:178616547;178616546;178616545 | chr2:179481274;179481273;179481272 |
| Novex-1 | 7142 | 21649;21650;21651 | chr2:178616547;178616546;178616545 | chr2:179481274;179481273;179481272 |
| Novex-2 | 7209 | 21850;21851;21852 | chr2:178616547;178616546;178616545 | chr2:179481274;179481273;179481272 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.977 | D | 0.461 | 0.282 | 0.427596317008 | gnomAD-4.0.0 | 6.84712E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00009E-07 | 0 | 0 |
| D/G | rs1468269495  |
-0.716 | 0.955 | D | 0.667 | 0.421 | 0.421427970867 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/G | rs1468269495 |
-0.716 | 0.955 | D | 0.667 | 0.421 | 0.421427970867 | gnomAD-4.0.0 | 3.18795E-06 | None | None | None | None | N | None | 0 | 4.57834E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8311 | likely_pathogenic | 0.9302 | pathogenic | -0.187 | Destabilizing | 0.993 | D | 0.69 | prob.neutral | D | 0.601249942 | None | None | N |
| D/C | 0.9508 | likely_pathogenic | 0.9871 | pathogenic | 0.125 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| D/E | 0.8669 | likely_pathogenic | 0.9359 | pathogenic | -0.718 | Destabilizing | 0.977 | D | 0.461 | neutral | D | 0.596625902 | None | None | N |
| D/F | 0.9726 | likely_pathogenic | 0.9875 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/G | 0.8006 | likely_pathogenic | 0.9195 | pathogenic | -0.445 | Destabilizing | 0.955 | D | 0.667 | neutral | D | 0.657606648 | None | None | N |
| D/H | 0.8797 | likely_pathogenic | 0.9529 | pathogenic | -0.975 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.648388861 | None | None | N |
| D/I | 0.9395 | likely_pathogenic | 0.9775 | pathogenic | 0.454 | Stabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| D/K | 0.9522 | likely_pathogenic | 0.9784 | pathogenic | 0.061 | Stabilizing | 0.995 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/L | 0.9275 | likely_pathogenic | 0.9665 | pathogenic | 0.454 | Stabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| D/M | 0.9771 | likely_pathogenic | 0.9923 | pathogenic | 0.914 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/N | 0.236 | likely_benign | 0.4236 | ambiguous | -0.201 | Destabilizing | 0.235 | N | 0.275 | neutral | N | 0.468921511 | None | None | N |
| D/P | 0.9653 | likely_pathogenic | 0.9854 | pathogenic | 0.265 | Stabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| D/Q | 0.9544 | likely_pathogenic | 0.9831 | pathogenic | -0.136 | Destabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | N |
| D/R | 0.9501 | likely_pathogenic | 0.9785 | pathogenic | -0.111 | Destabilizing | 0.995 | D | 0.749 | deleterious | None | None | None | None | N |
| D/S | 0.5476 | ambiguous | 0.7741 | pathogenic | -0.365 | Destabilizing | 0.966 | D | 0.665 | neutral | None | None | None | None | N |
| D/T | 0.7997 | likely_pathogenic | 0.9294 | pathogenic | -0.153 | Destabilizing | 0.995 | D | 0.703 | prob.neutral | None | None | None | None | N |
| D/V | 0.8672 | likely_pathogenic | 0.9474 | pathogenic | 0.265 | Stabilizing | 0.997 | D | 0.74 | deleterious | D | 0.635079991 | None | None | N |
| D/W | 0.9945 | likely_pathogenic | 0.9981 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/Y | 0.8126 | likely_pathogenic | 0.9176 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.759299855 | 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.