Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19247 | 57964;57965;57966 | chr2:178595615;178595614;178595613 | chr2:179460342;179460341;179460340 |
| N2AB | 17606 | 53041;53042;53043 | chr2:178595615;178595614;178595613 | chr2:179460342;179460341;179460340 |
| N2A | 16679 | 50260;50261;50262 | chr2:178595615;178595614;178595613 | chr2:179460342;179460341;179460340 |
| N2B | 10182 | 30769;30770;30771 | chr2:178595615;178595614;178595613 | chr2:179460342;179460341;179460340 |
| Novex-1 | 10307 | 31144;31145;31146 | chr2:178595615;178595614;178595613 | chr2:179460342;179460341;179460340 |
| Novex-2 | 10374 | 31345;31346;31347 | chr2:178595615;178595614;178595613 | chr2:179460342;179460341;179460340 |
| 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/A | None | None | 1.0 | N | 0.686 | 0.454 | 0.411265580357 | gnomAD-4.0.0 | 6.91505E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06024E-07 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.734 | 0.48 | 0.399304321381 | gnomAD-4.0.0 | 6.91505E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.67079E-05 |
| G/R | None | None | 1.0 | D | 0.767 | 0.512 | 0.66259775642 | gnomAD-4.0.0 | 1.63002E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.8255E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1222912274  |
0.017 | 1.0 | D | 0.749 | 0.575 | 0.701705663459 | gnomAD-2.1.1 | 4.43E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.97E-06 | 0 |
| G/V | rs1222912274 |
0.017 | 1.0 | D | 0.749 | 0.575 | 0.701705663459 | gnomAD-4.0.0 | 6.91505E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.74216E-04 | 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 | 0.2497 | likely_benign | 0.3323 | benign | -0.355 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.493065254 | None | None | N |
| G/C | 0.3356 | likely_benign | 0.4466 | ambiguous | -0.92 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.526262024 | None | None | N |
| G/D | 0.204 | likely_benign | 0.3436 | ambiguous | -0.602 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.489334905 | None | None | N |
| G/E | 0.3349 | likely_benign | 0.515 | ambiguous | -0.72 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/F | 0.7739 | likely_pathogenic | 0.8577 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/H | 0.4868 | ambiguous | 0.6611 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/I | 0.6871 | likely_pathogenic | 0.7973 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/K | 0.6817 | likely_pathogenic | 0.8474 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/L | 0.6956 | likely_pathogenic | 0.8079 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| G/M | 0.695 | likely_pathogenic | 0.7902 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/N | 0.216 | likely_benign | 0.2882 | benign | -0.652 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/P | 0.9304 | likely_pathogenic | 0.9566 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/Q | 0.4941 | ambiguous | 0.6581 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/R | 0.6191 | likely_pathogenic | 0.8001 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.528626798 | None | None | N |
| G/S | 0.1526 | likely_benign | 0.1981 | benign | -0.846 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.525431778 | None | None | N |
| G/T | 0.3561 | ambiguous | 0.4585 | ambiguous | -0.881 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| G/V | 0.519 | ambiguous | 0.649 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.525755045 | None | None | N |
| G/W | 0.6328 | likely_pathogenic | 0.7832 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5441 | ambiguous | 0.6987 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | 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.