Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34285 | 103078;103079;103080 | chr2:178533762;178533761;178533760 | chr2:179398489;179398488;179398487 |
| N2AB | 32644 | 98155;98156;98157 | chr2:178533762;178533761;178533760 | chr2:179398489;179398488;179398487 |
| N2A | 31717 | 95374;95375;95376 | chr2:178533762;178533761;178533760 | chr2:179398489;179398488;179398487 |
| N2B | 25220 | 75883;75884;75885 | chr2:178533762;178533761;178533760 | chr2:179398489;179398488;179398487 |
| Novex-1 | 25345 | 76258;76259;76260 | chr2:178533762;178533761;178533760 | chr2:179398489;179398488;179398487 |
| Novex-2 | 25412 | 76459;76460;76461 | chr2:178533762;178533761;178533760 | chr2:179398489;179398488;179398487 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs794729563  |
None | 1.0 | N | 0.727 | 0.549 | 0.299770980665 | gnomAD-4.0.0 | 3.42079E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49707E-06 | 0 | 0 |
| P/L | rs1690211632 |
None | 1.0 | D | 0.747 | 0.623 | 0.53754225682 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs1690211632 |
None | 1.0 | D | 0.747 | 0.623 | 0.53754225682 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.751 | 0.586 | 0.341460817117 | gnomAD-4.0.0 | 3.42079E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49707E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.744 | 0.608 | 0.420080204436 | gnomAD-4.0.0 | 6.84158E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9335 | likely_pathogenic | 0.917 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.482417196 | None | None | I |
| P/C | 0.9961 | likely_pathogenic | 0.9953 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| P/D | 0.9901 | likely_pathogenic | 0.9863 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| P/E | 0.9754 | likely_pathogenic | 0.9639 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| P/F | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| P/G | 0.98 | likely_pathogenic | 0.9722 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| P/H | 0.9877 | likely_pathogenic | 0.9825 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| P/I | 0.9892 | likely_pathogenic | 0.9885 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| P/K | 0.9758 | likely_pathogenic | 0.9701 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| P/L | 0.966 | likely_pathogenic | 0.9568 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.531690305 | None | None | I |
| P/M | 0.993 | likely_pathogenic | 0.9917 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| P/N | 0.992 | likely_pathogenic | 0.9902 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/Q | 0.9742 | likely_pathogenic | 0.964 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.510245142 | None | None | I |
| P/R | 0.9553 | likely_pathogenic | 0.9377 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.515018082 | None | None | I |
| P/S | 0.9785 | likely_pathogenic | 0.9714 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.514511103 | None | None | I |
| P/T | 0.9452 | likely_pathogenic | 0.9295 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.532704263 | None | None | I |
| P/V | 0.9736 | likely_pathogenic | 0.9714 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| P/W | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| P/Y | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.809 | 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.