Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19118 | 57577;57578;57579 | chr2:178597730;178597729;178597728 | chr2:179462457;179462456;179462455 |
| N2AB | 17477 | 52654;52655;52656 | chr2:178597730;178597729;178597728 | chr2:179462457;179462456;179462455 |
| N2A | 16550 | 49873;49874;49875 | chr2:178597730;178597729;178597728 | chr2:179462457;179462456;179462455 |
| N2B | 10053 | 30382;30383;30384 | chr2:178597730;178597729;178597728 | chr2:179462457;179462456;179462455 |
| Novex-1 | 10178 | 30757;30758;30759 | chr2:178597730;178597729;178597728 | chr2:179462457;179462456;179462455 |
| Novex-2 | 10245 | 30958;30959;30960 | chr2:178597730;178597729;178597728 | chr2:179462457;179462456;179462455 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1201313907  |
-0.397 | 1.0 | D | 0.807 | 0.701 | 0.801875625057 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs1201313907 |
-0.397 | 1.0 | D | 0.807 | 0.701 | 0.801875625057 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8087 | likely_pathogenic | 0.8526 | pathogenic | -0.313 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.572287209 | None | None | I |
| G/C | 0.9739 | likely_pathogenic | 0.9848 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/D | 0.9965 | likely_pathogenic | 0.9981 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/E | 0.9974 | likely_pathogenic | 0.9986 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.625756518 | None | None | I |
| G/F | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/H | 0.9989 | likely_pathogenic | 0.9995 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| G/I | 0.9975 | likely_pathogenic | 0.9987 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/K | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/L | 0.9966 | likely_pathogenic | 0.9981 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.9992 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/N | 0.9973 | likely_pathogenic | 0.9986 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9997 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Q | 0.9973 | likely_pathogenic | 0.9987 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/R | 0.9944 | likely_pathogenic | 0.997 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.629388995 | None | None | I |
| G/S | 0.8824 | likely_pathogenic | 0.9354 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/T | 0.9893 | likely_pathogenic | 0.9945 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.9923 | likely_pathogenic | 0.9956 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.629388995 | None | None | I |
| G/W | 0.9972 | likely_pathogenic | 0.9986 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
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.