Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22049 | 66370;66371;66372 | chr2:178582311;178582310;178582309 | chr2:179447038;179447037;179447036 |
| N2AB | 20408 | 61447;61448;61449 | chr2:178582311;178582310;178582309 | chr2:179447038;179447037;179447036 |
| N2A | 19481 | 58666;58667;58668 | chr2:178582311;178582310;178582309 | chr2:179447038;179447037;179447036 |
| N2B | 12984 | 39175;39176;39177 | chr2:178582311;178582310;178582309 | chr2:179447038;179447037;179447036 |
| Novex-1 | 13109 | 39550;39551;39552 | chr2:178582311;178582310;178582309 | chr2:179447038;179447037;179447036 |
| Novex-2 | 13176 | 39751;39752;39753 | chr2:178582311;178582310;178582309 | chr2:179447038;179447037;179447036 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs2047965308  |
None | 0.988 | N | 0.566 | 0.322 | 0.403328974453 | gnomAD-4.0.0 | 2.09365E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.72509E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6991 | likely_pathogenic | 0.6381 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.685 | prob.delet. | None | None | None | None | N |
| A/D | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -2.953 | Highly Destabilizing | 0.999 | D | 0.693 | prob.delet. | D | 0.530232632 | None | None | N |
| A/E | 0.9957 | likely_pathogenic | 0.9942 | pathogenic | -2.794 | Highly Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| A/F | 0.9573 | likely_pathogenic | 0.9499 | pathogenic | -0.83 | Destabilizing | 0.997 | D | 0.657 | prob.neutral | None | None | None | None | N |
| A/G | 0.7463 | likely_pathogenic | 0.7105 | pathogenic | -1.668 | Destabilizing | 0.996 | D | 0.529 | neutral | N | 0.518115858 | None | None | N |
| A/H | 0.9968 | likely_pathogenic | 0.9965 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.693 | prob.delet. | None | None | None | None | N |
| A/I | 0.7451 | likely_pathogenic | 0.6247 | pathogenic | -0.275 | Destabilizing | 0.965 | D | 0.574 | neutral | None | None | None | None | N |
| A/K | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.33 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| A/L | 0.7087 | likely_pathogenic | 0.6362 | pathogenic | -0.275 | Destabilizing | 0.918 | D | 0.581 | neutral | None | None | None | None | N |
| A/M | 0.7705 | likely_pathogenic | 0.6696 | pathogenic | -0.785 | Destabilizing | 0.997 | D | 0.618 | neutral | None | None | None | None | N |
| A/N | 0.9922 | likely_pathogenic | 0.9895 | pathogenic | -1.709 | Destabilizing | 0.999 | D | 0.669 | prob.neutral | None | None | None | None | N |
| A/P | 0.9437 | likely_pathogenic | 0.9387 | pathogenic | -0.574 | Destabilizing | 0.999 | D | 0.671 | prob.neutral | N | 0.497542841 | None | None | N |
| A/Q | 0.984 | likely_pathogenic | 0.9791 | pathogenic | -1.613 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| A/R | 0.993 | likely_pathogenic | 0.9921 | pathogenic | -1.286 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| A/S | 0.4848 | ambiguous | 0.4279 | ambiguous | -2.017 | Highly Destabilizing | 0.988 | D | 0.566 | neutral | N | 0.502467138 | None | None | N |
| A/T | 0.7727 | likely_pathogenic | 0.6561 | pathogenic | -1.755 | Destabilizing | 0.976 | D | 0.563 | neutral | N | 0.505830084 | None | None | N |
| A/V | 0.5604 | ambiguous | 0.4437 | ambiguous | -0.574 | Destabilizing | 0.188 | N | 0.346 | neutral | N | 0.510929259 | None | None | N |
| A/W | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.724 | deleterious | None | None | None | None | N |
| A/Y | 0.9929 | likely_pathogenic | 0.9919 | pathogenic | -1.019 | Destabilizing | 0.999 | D | 0.669 | prob.neutral | 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.