Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18931 | 57016;57017;57018 | chr2:178598919;178598918;178598917 | chr2:179463646;179463645;179463644 |
| N2AB | 17290 | 52093;52094;52095 | chr2:178598919;178598918;178598917 | chr2:179463646;179463645;179463644 |
| N2A | 16363 | 49312;49313;49314 | chr2:178598919;178598918;178598917 | chr2:179463646;179463645;179463644 |
| N2B | 9866 | 29821;29822;29823 | chr2:178598919;178598918;178598917 | chr2:179463646;179463645;179463644 |
| Novex-1 | 9991 | 30196;30197;30198 | chr2:178598919;178598918;178598917 | chr2:179463646;179463645;179463644 |
| Novex-2 | 10058 | 30397;30398;30399 | chr2:178598919;178598918;178598917 | chr2:179463646;179463645;179463644 |
| 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/R | None | None | 1.0 | D | 0.731 | 0.684 | 0.710119504205 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 6.07533E-05 | 0 |
| W/S | None | None | 1.0 | N | 0.73 | 0.545 | 0.773946979825 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -3.099 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/C | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.54211351 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.772 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| W/F | 0.8919 | likely_pathogenic | 0.876 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| W/G | 0.9958 | likely_pathogenic | 0.9945 | pathogenic | -3.296 | Highly Destabilizing | 1.0 | D | 0.638 | neutral | D | 0.529996736 | None | None | N |
| W/H | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/I | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/L | 0.9953 | likely_pathogenic | 0.993 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.512827079 | None | None | N |
| W/M | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.522995297 | None | None | N |
| W/S | 0.9988 | likely_pathogenic | 0.9981 | pathogenic | -2.448 | Highly Destabilizing | 1.0 | D | 0.73 | prob.delet. | N | 0.514094527 | None | None | N |
| W/T | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -2.335 | Highly Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| W/V | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9606 | likely_pathogenic | 0.9592 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.605 | 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.