Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7563 | 22912;22913;22914 | chr2:178721976;178721975;178721974 | chr2:179586703;179586702;179586701 |
| N2AB | 7246 | 21961;21962;21963 | chr2:178721976;178721975;178721974 | chr2:179586703;179586702;179586701 |
| N2A | 6319 | 19180;19181;19182 | chr2:178721976;178721975;178721974 | chr2:179586703;179586702;179586701 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs1321824189  |
-1.422 | 0.782 | D | 0.488 | 0.359 | 0.584336440749 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| I/F | rs1321824189 |
-1.422 | 0.782 | D | 0.488 | 0.359 | 0.584336440749 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/F | rs1321824189 |
-1.422 | 0.782 | D | 0.488 | 0.359 | 0.584336440749 | gnomAD-4.0.0 | 1.36352E-05 | None | None | None | None | I | None | 1.33536E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52591E-05 | 0 | 4.80446E-05 |
| I/M | rs1060500529 |
None | 0.068 | N | 0.348 | 0.144 | 0.517765160837 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/M | rs1060500529 |
None | 0.068 | N | 0.348 | 0.144 | 0.517765160837 | gnomAD-4.0.0 | 1.97226E-05 | None | None | None | None | I | None | 7.24078E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/N | None | None | 0.879 | N | 0.747 | 0.658 | 0.829482567802 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | None | None | 0.001 | N | 0.158 | 0.089 | 0.638539596753 | gnomAD-4.0.0 | 6.84302E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99591E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7209 | likely_pathogenic | 0.775 | pathogenic | -1.891 | Destabilizing | 0.404 | N | 0.525 | neutral | None | None | None | None | I |
| I/C | 0.9282 | likely_pathogenic | 0.93 | pathogenic | -1.1 | Destabilizing | 0.973 | D | 0.641 | neutral | None | None | None | None | I |
| I/D | 0.9776 | likely_pathogenic | 0.986 | pathogenic | -1.506 | Destabilizing | 0.906 | D | 0.739 | prob.delet. | None | None | None | None | I |
| I/E | 0.9309 | likely_pathogenic | 0.9547 | pathogenic | -1.468 | Destabilizing | 0.906 | D | 0.717 | prob.delet. | None | None | None | None | I |
| I/F | 0.256 | likely_benign | 0.2766 | benign | -1.315 | Destabilizing | 0.782 | D | 0.488 | neutral | D | 0.523055981 | None | None | I |
| I/G | 0.951 | likely_pathogenic | 0.9631 | pathogenic | -2.264 | Highly Destabilizing | 0.906 | D | 0.712 | prob.delet. | None | None | None | None | I |
| I/H | 0.8994 | likely_pathogenic | 0.9282 | pathogenic | -1.59 | Destabilizing | 0.991 | D | 0.761 | deleterious | None | None | None | None | I |
| I/K | 0.8649 | likely_pathogenic | 0.8987 | pathogenic | -1.398 | Destabilizing | 0.826 | D | 0.711 | prob.delet. | None | None | None | None | I |
| I/L | 0.179 | likely_benign | 0.2018 | benign | -0.91 | Destabilizing | 0.031 | N | 0.299 | neutral | N | 0.51368435 | None | None | I |
| I/M | 0.0941 | likely_benign | 0.1241 | benign | -0.672 | Destabilizing | 0.068 | N | 0.348 | neutral | N | 0.496234739 | None | None | I |
| I/N | 0.8185 | likely_pathogenic | 0.8566 | pathogenic | -1.218 | Destabilizing | 0.879 | D | 0.747 | deleterious | N | 0.509538392 | None | None | I |
| I/P | 0.9713 | likely_pathogenic | 0.9817 | pathogenic | -1.208 | Destabilizing | 0.967 | D | 0.741 | deleterious | None | None | None | None | I |
| I/Q | 0.8305 | likely_pathogenic | 0.886 | pathogenic | -1.344 | Destabilizing | 0.906 | D | 0.747 | deleterious | None | None | None | None | I |
| I/R | 0.7922 | likely_pathogenic | 0.8454 | pathogenic | -0.855 | Destabilizing | 0.826 | D | 0.743 | deleterious | None | None | None | None | I |
| I/S | 0.7562 | likely_pathogenic | 0.8209 | pathogenic | -1.821 | Destabilizing | 0.782 | D | 0.617 | neutral | N | 0.511089548 | None | None | I |
| I/T | 0.7166 | likely_pathogenic | 0.7296 | pathogenic | -1.66 | Destabilizing | 0.505 | D | 0.571 | neutral | N | 0.485153741 | None | None | I |
| I/V | 0.0944 | likely_benign | 0.0927 | benign | -1.208 | Destabilizing | 0.001 | N | 0.158 | neutral | N | 0.494671727 | None | None | I |
| I/W | 0.8996 | likely_pathogenic | 0.9223 | pathogenic | -1.461 | Destabilizing | 0.991 | D | 0.777 | deleterious | None | None | None | None | I |
| I/Y | 0.7614 | likely_pathogenic | 0.7909 | pathogenic | -1.233 | Destabilizing | 0.906 | D | 0.625 | neutral | 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.