Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33653 | 101182;101183;101184 | chr2:178535658;178535657;178535656 | chr2:179400385;179400384;179400383 |
| N2AB | 32012 | 96259;96260;96261 | chr2:178535658;178535657;178535656 | chr2:179400385;179400384;179400383 |
| N2A | 31085 | 93478;93479;93480 | chr2:178535658;178535657;178535656 | chr2:179400385;179400384;179400383 |
| N2B | 24588 | 73987;73988;73989 | chr2:178535658;178535657;178535656 | chr2:179400385;179400384;179400383 |
| Novex-1 | 24713 | 74362;74363;74364 | chr2:178535658;178535657;178535656 | chr2:179400385;179400384;179400383 |
| Novex-2 | 24780 | 74563;74564;74565 | chr2:178535658;178535657;178535656 | chr2:179400385;179400384;179400383 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1178063403  |
-1.38 | 1.0 | N | 0.814 | 0.676 | 0.783665132679 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs1178063403 |
-1.38 | 1.0 | N | 0.814 | 0.676 | 0.783665132679 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.983 | likely_pathogenic | 0.9678 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| L/C | 0.9854 | likely_pathogenic | 0.9727 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| L/E | 0.9992 | likely_pathogenic | 0.9984 | pathogenic | -2.476 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| L/F | 0.9168 | likely_pathogenic | 0.8054 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.515938082 | None | None | N |
| L/G | 0.9986 | likely_pathogenic | 0.9977 | pathogenic | -2.524 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| L/H | 0.9983 | likely_pathogenic | 0.9965 | pathogenic | -2.655 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.544464044 | None | None | N |
| L/I | 0.4183 | ambiguous | 0.2956 | benign | -0.345 | Destabilizing | 0.999 | D | 0.633 | neutral | N | 0.49286985 | None | None | N |
| L/K | 0.9983 | likely_pathogenic | 0.9967 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| L/M | 0.5792 | likely_pathogenic | 0.4252 | ambiguous | -0.677 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| L/N | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| L/P | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.544464044 | None | None | N |
| L/Q | 0.9975 | likely_pathogenic | 0.9942 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| L/R | 0.9962 | likely_pathogenic | 0.9928 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.544464044 | None | None | N |
| L/S | 0.9991 | likely_pathogenic | 0.998 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| L/T | 0.9939 | likely_pathogenic | 0.9887 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| L/V | 0.5078 | ambiguous | 0.3984 | ambiguous | -0.885 | Destabilizing | 0.999 | D | 0.641 | neutral | N | 0.508456117 | None | None | N |
| L/W | 0.996 | likely_pathogenic | 0.99 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| L/Y | 0.9963 | likely_pathogenic | 0.9914 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.863 | 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.