Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23133 | 69622;69623;69624 | chr2:178576938;178576937;178576936 | chr2:179441665;179441664;179441663 |
| N2AB | 21492 | 64699;64700;64701 | chr2:178576938;178576937;178576936 | chr2:179441665;179441664;179441663 |
| N2A | 20565 | 61918;61919;61920 | chr2:178576938;178576937;178576936 | chr2:179441665;179441664;179441663 |
| N2B | 14068 | 42427;42428;42429 | chr2:178576938;178576937;178576936 | chr2:179441665;179441664;179441663 |
| Novex-1 | 14193 | 42802;42803;42804 | chr2:178576938;178576937;178576936 | chr2:179441665;179441664;179441663 |
| Novex-2 | 14260 | 43003;43004;43005 | chr2:178576938;178576937;178576936 | chr2:179441665;179441664;179441663 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/V | None | None | None | N | 0.092 | 0.32 | 0.370051654043 | gnomAD-4.0.0 | 1.59791E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87026E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.7381 | likely_pathogenic | 0.7406 | pathogenic | -2.254 | Highly Destabilizing | None | N | 0.347 | neutral | None | None | None | None | N |
| M/C | 0.8907 | likely_pathogenic | 0.9009 | pathogenic | -2.597 | Highly Destabilizing | 0.703 | D | 0.535 | neutral | None | None | None | None | N |
| M/D | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.515 | Highly Destabilizing | 0.703 | D | 0.697 | prob.delet. | None | None | None | None | N |
| M/E | 0.9932 | likely_pathogenic | 0.9949 | pathogenic | -2.322 | Highly Destabilizing | 0.25 | N | 0.571 | neutral | None | None | None | None | N |
| M/F | 0.8494 | likely_pathogenic | 0.861 | pathogenic | -0.838 | Destabilizing | 0.25 | N | 0.566 | neutral | None | None | None | None | N |
| M/G | 0.9817 | likely_pathogenic | 0.981 | pathogenic | -2.676 | Highly Destabilizing | 0.143 | N | 0.615 | neutral | None | None | None | None | N |
| M/H | 0.9948 | likely_pathogenic | 0.9956 | pathogenic | -2.292 | Highly Destabilizing | 0.964 | D | 0.566 | neutral | None | None | None | None | N |
| M/I | 0.7691 | likely_pathogenic | 0.8301 | pathogenic | -1.055 | Destabilizing | None | N | 0.131 | neutral | N | 0.474928386 | None | None | N |
| M/K | 0.9844 | likely_pathogenic | 0.9885 | pathogenic | -1.61 | Destabilizing | 0.201 | N | 0.563 | neutral | N | 0.496498749 | None | None | N |
| M/L | 0.5714 | likely_pathogenic | 0.5561 | ambiguous | -1.055 | Destabilizing | 0.003 | N | 0.323 | neutral | N | 0.488857689 | None | None | N |
| M/N | 0.9843 | likely_pathogenic | 0.9853 | pathogenic | -1.947 | Destabilizing | 0.703 | D | 0.599 | neutral | None | None | None | None | N |
| M/P | 0.9848 | likely_pathogenic | 0.9857 | pathogenic | -1.438 | Destabilizing | 0.703 | D | 0.62 | neutral | None | None | None | None | N |
| M/Q | 0.9482 | likely_pathogenic | 0.9576 | pathogenic | -1.715 | Destabilizing | 0.703 | D | 0.589 | neutral | None | None | None | None | N |
| M/R | 0.9795 | likely_pathogenic | 0.9843 | pathogenic | -1.608 | Destabilizing | 0.641 | D | 0.629 | neutral | N | 0.495991769 | None | None | N |
| M/S | 0.9488 | likely_pathogenic | 0.951 | pathogenic | -2.448 | Highly Destabilizing | 0.143 | N | 0.611 | neutral | None | None | None | None | N |
| M/T | 0.9219 | likely_pathogenic | 0.9209 | pathogenic | -2.142 | Highly Destabilizing | 0.094 | N | 0.587 | neutral | N | 0.453568892 | None | None | N |
| M/V | 0.4017 | ambiguous | 0.4507 | ambiguous | -1.438 | Destabilizing | None | N | 0.092 | neutral | N | 0.461361656 | None | None | N |
| M/W | 0.9944 | likely_pathogenic | 0.9952 | pathogenic | -1.193 | Destabilizing | 0.964 | D | 0.526 | neutral | None | None | None | None | N |
| M/Y | 0.9874 | likely_pathogenic | 0.9898 | pathogenic | -1.16 | Destabilizing | 0.703 | D | 0.619 | 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.