Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22102 | 66529;66530;66531 | chr2:178582065;178582064;178582063 | chr2:179446792;179446791;179446790 |
| N2AB | 20461 | 61606;61607;61608 | chr2:178582065;178582064;178582063 | chr2:179446792;179446791;179446790 |
| N2A | 19534 | 58825;58826;58827 | chr2:178582065;178582064;178582063 | chr2:179446792;179446791;179446790 |
| N2B | 13037 | 39334;39335;39336 | chr2:178582065;178582064;178582063 | chr2:179446792;179446791;179446790 |
| Novex-1 | 13162 | 39709;39710;39711 | chr2:178582065;178582064;178582063 | chr2:179446792;179446791;179446790 |
| Novex-2 | 13229 | 39910;39911;39912 | chr2:178582065;178582064;178582063 | chr2:179446792;179446791;179446790 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.68 | 0.603 | 0.787444273845 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -2.973 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/C | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.550764471 | None | None | N |
| W/D | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| W/F | 0.7098 | likely_pathogenic | 0.6823 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.616 | neutral | None | None | None | None | N |
| W/G | 0.9911 | likely_pathogenic | 0.9875 | pathogenic | -3.158 | Highly Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.549750513 | None | None | N |
| W/H | 0.9963 | likely_pathogenic | 0.9955 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| W/I | 0.9965 | likely_pathogenic | 0.9956 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/L | 0.9904 | likely_pathogenic | 0.9869 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.519529484 | None | None | N |
| W/M | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| W/N | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| W/P | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | D | 0.532153237 | None | None | N |
| W/S | 0.9967 | likely_pathogenic | 0.9954 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.513996076 | None | None | N |
| W/T | 0.9982 | likely_pathogenic | 0.9975 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/V | 0.9964 | likely_pathogenic | 0.9953 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9163 | likely_pathogenic | 0.9102 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.551 | 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.