Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24837 | 74734;74735;74736 | chr2:178571623;178571622;178571621 | chr2:179436350;179436349;179436348 |
| N2AB | 23196 | 69811;69812;69813 | chr2:178571623;178571622;178571621 | chr2:179436350;179436349;179436348 |
| N2A | 22269 | 67030;67031;67032 | chr2:178571623;178571622;178571621 | chr2:179436350;179436349;179436348 |
| N2B | 15772 | 47539;47540;47541 | chr2:178571623;178571622;178571621 | chr2:179436350;179436349;179436348 |
| Novex-1 | 15897 | 47914;47915;47916 | chr2:178571623;178571622;178571621 | chr2:179436350;179436349;179436348 |
| Novex-2 | 15964 | 48115;48116;48117 | chr2:178571623;178571622;178571621 | chr2:179436350;179436349;179436348 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1178195707  |
-0.141 | 1.0 | D | 0.829 | 0.537 | 0.427368086475 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.03509E-04 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1178195707 |
-0.141 | 1.0 | D | 0.829 | 0.537 | 0.427368086475 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1178195707 |
-0.141 | 1.0 | D | 0.829 | 0.537 | 0.427368086475 | gnomAD-4.0.0 | 2.47962E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 8.94694E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9657 | likely_pathogenic | 0.9677 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.521428815 | None | None | I |
| G/C | 0.9894 | likely_pathogenic | 0.9902 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.540800518 | None | None | I |
| G/D | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -0.26 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.531428768 | None | None | I |
| G/E | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/F | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/H | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/L | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/M | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/N | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/Q | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/R | 0.9938 | likely_pathogenic | 0.9937 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.508502347 | None | None | I |
| G/S | 0.9593 | likely_pathogenic | 0.9613 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.513578002 | None | None | I |
| G/T | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/V | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.551814428 | None | None | I |
| G/W | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
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.