Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14128 | 42607;42608;42609 | chr2:178634399;178634398;178634397 | chr2:179499126;179499125;179499124 |
| N2AB | 12487 | 37684;37685;37686 | chr2:178634399;178634398;178634397 | chr2:179499126;179499125;179499124 |
| N2A | 11560 | 34903;34904;34905 | chr2:178634399;178634398;178634397 | chr2:179499126;179499125;179499124 |
| N2B | 5063 | 15412;15413;15414 | chr2:178634399;178634398;178634397 | chr2:179499126;179499125;179499124 |
| Novex-1 | 5188 | 15787;15788;15789 | chr2:178634399;178634398;178634397 | chr2:179499126;179499125;179499124 |
| Novex-2 | 5255 | 15988;15989;15990 | chr2:178634399;178634398;178634397 | chr2:179499126;179499125;179499124 |
| 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/A | rs370793851  |
-0.381 | 0.984 | N | 0.619 | 0.408 | None | gnomAD-2.1.1 | 5.3E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.07916E-04 | 1.67785E-04 |
| G/A | rs370793851 |
-0.381 | 0.984 | N | 0.619 | 0.408 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 0 | 0 |
| G/A | rs370793851 |
-0.381 | 0.984 | N | 0.619 | 0.408 | None | gnomAD-4.0.0 | 8.81726E-05 | None | None | None | None | N | None | 1.34045E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.03483E-04 | 0 | 3.04966E-04 |
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 | 0.3943 | ambiguous | 0.4541 | ambiguous | -0.295 | Destabilizing | 0.984 | D | 0.619 | neutral | N | 0.508910869 | None | None | N |
| G/C | 0.5744 | likely_pathogenic | 0.6665 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.634878005 | None | None | N |
| G/D | 0.2074 | likely_benign | 0.2437 | benign | -0.882 | Destabilizing | 0.315 | N | 0.539 | neutral | N | 0.471826747 | None | None | N |
| G/E | 0.2942 | likely_benign | 0.3667 | ambiguous | -1.033 | Destabilizing | 0.993 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/F | 0.8819 | likely_pathogenic | 0.9255 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/H | 0.6412 | likely_pathogenic | 0.7165 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/I | 0.7695 | likely_pathogenic | 0.8364 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/K | 0.6305 | likely_pathogenic | 0.7186 | pathogenic | -0.972 | Destabilizing | 0.997 | D | 0.708 | prob.delet. | None | None | None | None | N |
| G/L | 0.8175 | likely_pathogenic | 0.8605 | pathogenic | -0.446 | Destabilizing | 0.998 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/M | 0.7973 | likely_pathogenic | 0.8431 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/N | 0.2879 | likely_benign | 0.3495 | ambiguous | -0.621 | Destabilizing | 0.993 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/P | 0.9783 | likely_pathogenic | 0.9874 | pathogenic | -0.366 | Destabilizing | 0.998 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/Q | 0.4972 | ambiguous | 0.5911 | pathogenic | -0.904 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/R | 0.549 | ambiguous | 0.6531 | pathogenic | -0.473 | Destabilizing | 0.998 | D | 0.732 | prob.delet. | D | 0.594105841 | None | None | N |
| G/S | 0.192 | likely_benign | 0.2345 | benign | -0.718 | Destabilizing | 0.996 | D | 0.72 | prob.delet. | N | 0.509093581 | None | None | N |
| G/T | 0.4451 | ambiguous | 0.5121 | ambiguous | -0.807 | Destabilizing | 0.997 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/V | 0.6302 | likely_pathogenic | 0.7218 | pathogenic | -0.366 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | D | 0.546218621 | None | None | N |
| G/W | 0.7744 | likely_pathogenic | 0.8357 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/Y | 0.7422 | likely_pathogenic | 0.8142 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.747 | 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.