Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28102 | 84529;84530;84531 | chr2:178561828;178561827;178561826 | chr2:179426555;179426554;179426553 |
| N2AB | 26461 | 79606;79607;79608 | chr2:178561828;178561827;178561826 | chr2:179426555;179426554;179426553 |
| N2A | 25534 | 76825;76826;76827 | chr2:178561828;178561827;178561826 | chr2:179426555;179426554;179426553 |
| N2B | 19037 | 57334;57335;57336 | chr2:178561828;178561827;178561826 | chr2:179426555;179426554;179426553 |
| Novex-1 | 19162 | 57709;57710;57711 | chr2:178561828;178561827;178561826 | chr2:179426555;179426554;179426553 |
| Novex-2 | 19229 | 57910;57911;57912 | chr2:178561828;178561827;178561826 | chr2:179426555;179426554;179426553 |
| 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 | rs1338535777  |
None | 1.0 | D | 0.658 | 0.546 | 0.764937563966 | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 0 |
| W/R | rs1553565393 |
None | 1.0 | D | 0.708 | 0.609 | 0.737133079677 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8585E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.962 | likely_pathogenic | 0.9552 | pathogenic | -3.255 | Highly Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/C | 0.9865 | likely_pathogenic | 0.9819 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.658 | neutral | D | 0.543687354 | None | None | N |
| W/D | 0.9929 | likely_pathogenic | 0.9908 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/E | 0.9943 | likely_pathogenic | 0.9923 | pathogenic | -2.598 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/F | 0.664 | likely_pathogenic | 0.6056 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| W/G | 0.8985 | likely_pathogenic | 0.8903 | pathogenic | -3.452 | Highly Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.549421345 | None | None | N |
| W/H | 0.9825 | likely_pathogenic | 0.9734 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| W/I | 0.9747 | likely_pathogenic | 0.9725 | pathogenic | -2.502 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/K | 0.9967 | likely_pathogenic | 0.9953 | pathogenic | -1.865 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| W/L | 0.9118 | likely_pathogenic | 0.9137 | pathogenic | -2.502 | Highly Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.533519136 | None | None | N |
| W/M | 0.9777 | likely_pathogenic | 0.974 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| W/N | 0.9856 | likely_pathogenic | 0.9817 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| W/P | 0.9829 | likely_pathogenic | 0.9755 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9961 | likely_pathogenic | 0.9946 | pathogenic | -2.317 | Highly Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| W/R | 0.9929 | likely_pathogenic | 0.9899 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.56128463 | None | None | N |
| W/S | 0.9134 | likely_pathogenic | 0.9017 | pathogenic | -2.629 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.532758667 | None | None | N |
| W/T | 0.9623 | likely_pathogenic | 0.957 | pathogenic | -2.495 | Highly Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| W/V | 0.963 | likely_pathogenic | 0.959 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/Y | 0.8074 | likely_pathogenic | 0.7391 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.581 | 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.