Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15631 | 47116;47117;47118 | chr2:178618659;178618658;178618657 | chr2:179483386;179483385;179483384 |
| N2AB | 13990 | 42193;42194;42195 | chr2:178618659;178618658;178618657 | chr2:179483386;179483385;179483384 |
| N2A | 13063 | 39412;39413;39414 | chr2:178618659;178618658;178618657 | chr2:179483386;179483385;179483384 |
| N2B | 6566 | 19921;19922;19923 | chr2:178618659;178618658;178618657 | chr2:179483386;179483385;179483384 |
| Novex-1 | 6691 | 20296;20297;20298 | chr2:178618659;178618658;178618657 | chr2:179483386;179483385;179483384 |
| Novex-2 | 6758 | 20497;20498;20499 | chr2:178618659;178618658;178618657 | chr2:179483386;179483385;179483384 |
| 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 | rs372868510  |
-0.216 | 0.058 | D | 0.393 | 0.473 | 0.539792608675 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| D/E | rs372868510 |
-0.216 | 0.058 | D | 0.393 | 0.473 | 0.539792608675 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| D/E | rs372868510 |
-0.216 | 0.058 | D | 0.393 | 0.473 | 0.539792608675 | gnomAD-4.0.0 | 4.90029E-05 | None | None | None | None | N | None | 4.01316E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.36122E-05 | 0 | 1.60339E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7419 | likely_pathogenic | 0.8567 | pathogenic | -0.068 | Destabilizing | 0.822 | D | 0.799 | deleterious | D | 0.538147483 | None | None | N |
| D/C | 0.85 | likely_pathogenic | 0.9263 | pathogenic | -0.039 | Destabilizing | 0.998 | D | 0.807 | deleterious | None | None | None | None | N |
| D/E | 0.4674 | ambiguous | 0.605 | pathogenic | -0.483 | Destabilizing | 0.058 | N | 0.393 | neutral | D | 0.542745788 | None | None | N |
| D/F | 0.8961 | likely_pathogenic | 0.9395 | pathogenic | 0.646 | Stabilizing | 0.978 | D | 0.839 | deleterious | None | None | None | None | N |
| D/G | 0.8212 | likely_pathogenic | 0.9062 | pathogenic | -0.453 | Destabilizing | 0.822 | D | 0.751 | deleterious | D | 0.537663138 | None | None | N |
| D/H | 0.5454 | ambiguous | 0.7222 | pathogenic | 0.516 | Stabilizing | 0.014 | N | 0.525 | neutral | D | 0.542396648 | None | None | N |
| D/I | 0.8926 | likely_pathogenic | 0.9402 | pathogenic | 0.951 | Stabilizing | 0.978 | D | 0.826 | deleterious | None | None | None | None | N |
| D/K | 0.9227 | likely_pathogenic | 0.9553 | pathogenic | 0.089 | Stabilizing | 0.86 | D | 0.773 | deleterious | None | None | None | None | N |
| D/L | 0.894 | likely_pathogenic | 0.9376 | pathogenic | 0.951 | Stabilizing | 0.956 | D | 0.838 | deleterious | None | None | None | None | N |
| D/M | 0.9094 | likely_pathogenic | 0.9516 | pathogenic | 1.146 | Stabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| D/N | 0.3196 | likely_benign | 0.4562 | ambiguous | -0.634 | Destabilizing | 0.698 | D | 0.671 | neutral | D | 0.538310191 | None | None | N |
| D/P | 0.9913 | likely_pathogenic | 0.9955 | pathogenic | 0.638 | Stabilizing | 0.993 | D | 0.776 | deleterious | None | None | None | None | N |
| D/Q | 0.7384 | likely_pathogenic | 0.8396 | pathogenic | -0.413 | Destabilizing | 0.956 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/R | 0.952 | likely_pathogenic | 0.9714 | pathogenic | 0.33 | Stabilizing | 0.956 | D | 0.827 | deleterious | None | None | None | None | N |
| D/S | 0.5534 | ambiguous | 0.7173 | pathogenic | -0.829 | Destabilizing | 0.86 | D | 0.668 | neutral | None | None | None | None | N |
| D/T | 0.8327 | likely_pathogenic | 0.9094 | pathogenic | -0.488 | Destabilizing | 0.978 | D | 0.783 | deleterious | None | None | None | None | N |
| D/V | 0.7952 | likely_pathogenic | 0.8753 | pathogenic | 0.638 | Stabilizing | 0.971 | D | 0.837 | deleterious | D | 0.537948416 | None | None | N |
| D/W | 0.977 | likely_pathogenic | 0.9872 | pathogenic | 0.856 | Stabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | N |
| D/Y | 0.6401 | likely_pathogenic | 0.7541 | pathogenic | 0.928 | Stabilizing | 0.89 | D | 0.839 | deleterious | D | 0.537872836 | 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.