Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21984 | 66175;66176;66177 | chr2:178582506;178582505;178582504 | chr2:179447233;179447232;179447231 |
| N2AB | 20343 | 61252;61253;61254 | chr2:178582506;178582505;178582504 | chr2:179447233;179447232;179447231 |
| N2A | 19416 | 58471;58472;58473 | chr2:178582506;178582505;178582504 | chr2:179447233;179447232;179447231 |
| N2B | 12919 | 38980;38981;38982 | chr2:178582506;178582505;178582504 | chr2:179447233;179447232;179447231 |
| Novex-1 | 13044 | 39355;39356;39357 | chr2:178582506;178582505;178582504 | chr2:179447233;179447232;179447231 |
| Novex-2 | 13111 | 39556;39557;39558 | chr2:178582506;178582505;178582504 | chr2:179447233;179447232;179447231 |
| 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/R | None | None | 1.0 | N | 0.849 | 0.556 | 0.675916937895 | gnomAD-4.0.0 | 1.20039E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31257E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9813 | likely_pathogenic | 0.9655 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.537189212 | None | None | I |
| G/C | 0.9951 | likely_pathogenic | 0.9911 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/D | 0.9982 | likely_pathogenic | 0.9972 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/E | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.548038539 | None | None | I |
| G/F | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/H | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/K | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/L | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/M | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/N | 0.9991 | likely_pathogenic | 0.9979 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.9992 | likely_pathogenic | 0.9985 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/R | 0.9968 | likely_pathogenic | 0.9947 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.510184187 | None | None | I |
| G/S | 0.9839 | likely_pathogenic | 0.9669 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/T | 0.9976 | likely_pathogenic | 0.9959 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/V | 0.9985 | likely_pathogenic | 0.9975 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.526682281 | None | None | I |
| G/W | 0.9984 | likely_pathogenic | 0.9974 | pathogenic | -1.173 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.808 | 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.