Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13847 | 41764;41765;41766 | chr2:178636032;178636031;178636030 | chr2:179500759;179500758;179500757 |
| N2AB | 12206 | 36841;36842;36843 | chr2:178636032;178636031;178636030 | chr2:179500759;179500758;179500757 |
| N2A | 11279 | 34060;34061;34062 | chr2:178636032;178636031;178636030 | chr2:179500759;179500758;179500757 |
| N2B | 4782 | 14569;14570;14571 | chr2:178636032;178636031;178636030 | chr2:179500759;179500758;179500757 |
| Novex-1 | 4907 | 14944;14945;14946 | chr2:178636032;178636031;178636030 | chr2:179500759;179500758;179500757 |
| Novex-2 | 4974 | 15145;15146;15147 | chr2:178636032;178636031;178636030 | chr2:179500759;179500758;179500757 |
| 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/V | rs1439068447  |
-0.137 | 0.896 | N | 0.555 | 0.132 | 0.277317399466 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| A/V | rs1439068447 |
-0.137 | 0.896 | N | 0.555 | 0.132 | 0.277317399466 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1439068447 |
-0.137 | 0.896 | N | 0.555 | 0.132 | 0.277317399466 | gnomAD-4.0.0 | 1.05396E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44145E-05 | 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 | 0.7868 | likely_pathogenic | 0.7402 | pathogenic | -0.892 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| A/D | 0.8953 | likely_pathogenic | 0.8525 | pathogenic | -0.578 | Destabilizing | 0.938 | D | 0.705 | prob.delet. | N | 0.334318209 | None | None | N |
| A/E | 0.714 | likely_pathogenic | 0.6575 | pathogenic | -0.693 | Destabilizing | 0.261 | N | 0.313 | neutral | None | None | None | None | N |
| A/F | 0.8505 | likely_pathogenic | 0.7886 | pathogenic | -1.067 | Destabilizing | 0.996 | D | 0.74 | deleterious | None | None | None | None | N |
| A/G | 0.3185 | likely_benign | 0.2605 | benign | -0.744 | Destabilizing | 0.026 | N | 0.25 | neutral | N | 0.325727512 | None | None | N |
| A/H | 0.9019 | likely_pathogenic | 0.8636 | pathogenic | -0.801 | Destabilizing | 0.999 | D | 0.701 | prob.delet. | None | None | None | None | N |
| A/I | 0.7624 | likely_pathogenic | 0.6809 | pathogenic | -0.426 | Destabilizing | 0.976 | D | 0.675 | prob.neutral | None | None | None | None | N |
| A/K | 0.8648 | likely_pathogenic | 0.8143 | pathogenic | -0.836 | Destabilizing | 0.976 | D | 0.667 | prob.neutral | None | None | None | None | N |
| A/L | 0.6742 | likely_pathogenic | 0.5608 | ambiguous | -0.426 | Destabilizing | 0.919 | D | 0.651 | prob.neutral | None | None | None | None | N |
| A/M | 0.6305 | likely_pathogenic | 0.5337 | ambiguous | -0.355 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| A/N | 0.7664 | likely_pathogenic | 0.6753 | pathogenic | -0.518 | Destabilizing | 0.976 | D | 0.754 | deleterious | None | None | None | None | N |
| A/P | 0.9689 | likely_pathogenic | 0.9538 | pathogenic | -0.449 | Destabilizing | 0.995 | D | 0.672 | prob.neutral | N | 0.448269736 | None | None | N |
| A/Q | 0.7195 | likely_pathogenic | 0.6509 | pathogenic | -0.774 | Destabilizing | 0.976 | D | 0.672 | prob.neutral | None | None | None | None | N |
| A/R | 0.7603 | likely_pathogenic | 0.706 | pathogenic | -0.406 | Destabilizing | 0.976 | D | 0.673 | prob.neutral | None | None | None | None | N |
| A/S | 0.1576 | likely_benign | 0.1419 | benign | -0.829 | Destabilizing | 0.811 | D | 0.549 | neutral | N | 0.347750387 | None | None | N |
| A/T | 0.2536 | likely_benign | 0.2088 | benign | -0.853 | Destabilizing | 0.211 | N | 0.229 | neutral | N | 0.344266999 | None | None | N |
| A/V | 0.5055 | ambiguous | 0.4184 | ambiguous | -0.449 | Destabilizing | 0.896 | D | 0.555 | neutral | N | 0.317257418 | None | None | N |
| A/W | 0.9826 | likely_pathogenic | 0.9717 | pathogenic | -1.241 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| A/Y | 0.9123 | likely_pathogenic | 0.8764 | pathogenic | -0.872 | Destabilizing | 0.996 | D | 0.739 | 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.