Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23251 | 69976;69977;69978 | chr2:178576381;178576380;178576379 | chr2:179441108;179441107;179441106 |
| N2AB | 21610 | 65053;65054;65055 | chr2:178576381;178576380;178576379 | chr2:179441108;179441107;179441106 |
| N2A | 20683 | 62272;62273;62274 | chr2:178576381;178576380;178576379 | chr2:179441108;179441107;179441106 |
| N2B | 14186 | 42781;42782;42783 | chr2:178576381;178576380;178576379 | chr2:179441108;179441107;179441106 |
| Novex-1 | 14311 | 43156;43157;43158 | chr2:178576381;178576380;178576379 | chr2:179441108;179441107;179441106 |
| Novex-2 | 14378 | 43357;43358;43359 | chr2:178576381;178576380;178576379 | chr2:179441108;179441107;179441106 |
| 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/N | None | None | 0.999 | D | 0.665 | 0.385 | 0.272205846399 | gnomAD-4.0.0 | 3.47087E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.80647E-05 | None | 0 | 0 | 3.01819E-06 | 0 | 0 |
| D/Y | None | None | 1.0 | N | 0.745 | 0.485 | 0.658222036576 | gnomAD-4.0.0 | 1.73544E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.01819E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9136 | likely_pathogenic | 0.9083 | pathogenic | -0.266 | Destabilizing | 0.999 | D | 0.671 | neutral | N | 0.472013894 | None | None | N |
| D/C | 0.9912 | likely_pathogenic | 0.9902 | pathogenic | 0.352 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/E | 0.8263 | likely_pathogenic | 0.8473 | pathogenic | -0.356 | Destabilizing | 0.767 | D | 0.242 | neutral | N | 0.502490629 | None | None | N |
| D/F | 0.9893 | likely_pathogenic | 0.9891 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/G | 0.8825 | likely_pathogenic | 0.8662 | pathogenic | -0.434 | Destabilizing | 0.998 | D | 0.7 | prob.neutral | N | 0.476484119 | None | None | N |
| D/H | 0.9629 | likely_pathogenic | 0.9627 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.496616291 | None | None | N |
| D/I | 0.9884 | likely_pathogenic | 0.9887 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/K | 0.9812 | likely_pathogenic | 0.9817 | pathogenic | 0.467 | Stabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/L | 0.9793 | likely_pathogenic | 0.9795 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| D/M | 0.9937 | likely_pathogenic | 0.9935 | pathogenic | 0.491 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| D/N | 0.622 | likely_pathogenic | 0.645 | pathogenic | 0.31 | Stabilizing | 0.999 | D | 0.665 | neutral | D | 0.523385976 | None | None | N |
| D/P | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/Q | 0.9712 | likely_pathogenic | 0.9728 | pathogenic | 0.294 | Stabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/R | 0.9765 | likely_pathogenic | 0.9765 | pathogenic | 0.35 | Stabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| D/S | 0.7984 | likely_pathogenic | 0.793 | pathogenic | 0.216 | Stabilizing | 0.997 | D | 0.627 | neutral | None | None | None | None | N |
| D/T | 0.9559 | likely_pathogenic | 0.9542 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| D/V | 0.9605 | likely_pathogenic | 0.9627 | pathogenic | 0.014 | Stabilizing | 0.999 | D | 0.777 | deleterious | N | 0.51592186 | None | None | N |
| D/W | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| D/Y | 0.9214 | likely_pathogenic | 0.9203 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.510605942 | 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.