Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2287 | 7084;7085;7086 | chr2:178774405;178774404;178774403 | chr2:179639132;179639131;179639130 |
| N2AB | 2287 | 7084;7085;7086 | chr2:178774405;178774404;178774403 | chr2:179639132;179639131;179639130 |
| N2A | 2287 | 7084;7085;7086 | chr2:178774405;178774404;178774403 | chr2:179639132;179639131;179639130 |
| N2B | 2241 | 6946;6947;6948 | chr2:178774405;178774404;178774403 | chr2:179639132;179639131;179639130 |
| Novex-1 | 2241 | 6946;6947;6948 | chr2:178774405;178774404;178774403 | chr2:179639132;179639131;179639130 |
| Novex-2 | 2241 | 6946;6947;6948 | chr2:178774405;178774404;178774403 | chr2:179639132;179639131;179639130 |
| Novex-3 | 2287 | 7084;7085;7086 | chr2:178774405;178774404;178774403 | chr2:179639132;179639131;179639130 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1235978208  |
-0.367 | 0.999 | N | 0.557 | 0.484 | 0.467074840246 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| E/K | rs1235978208 |
-0.367 | 0.999 | N | 0.557 | 0.484 | 0.467074840246 | gnomAD-4.0.0 | 3.1822E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71406E-06 | 0 | 0 |
| E/Q | rs1235978208 |
None | 1.0 | D | 0.611 | 0.374 | 0.417081434665 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| E/Q | rs1235978208 |
None | 1.0 | D | 0.611 | 0.374 | 0.417081434665 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2932 | likely_benign | 0.2709 | benign | -0.989 | Destabilizing | 0.999 | D | 0.665 | neutral | N | 0.512712348 | None | None | N |
| E/C | 0.9446 | likely_pathogenic | 0.934 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| E/D | 0.3796 | ambiguous | 0.3445 | ambiguous | -1.424 | Destabilizing | 0.999 | D | 0.465 | neutral | N | 0.515272795 | None | None | N |
| E/F | 0.9036 | likely_pathogenic | 0.883 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| E/G | 0.4815 | ambiguous | 0.4393 | ambiguous | -1.372 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.551544821 | None | None | N |
| E/H | 0.7673 | likely_pathogenic | 0.7255 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| E/I | 0.6014 | likely_pathogenic | 0.5765 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/K | 0.5668 | likely_pathogenic | 0.5107 | ambiguous | -1.068 | Destabilizing | 0.999 | D | 0.557 | neutral | N | 0.454750925 | None | None | N |
| E/L | 0.7104 | likely_pathogenic | 0.6795 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/M | 0.7152 | likely_pathogenic | 0.6887 | pathogenic | 0.581 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| E/N | 0.5561 | ambiguous | 0.5195 | ambiguous | -1.426 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| E/P | 0.9908 | likely_pathogenic | 0.9883 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/Q | 0.2264 | likely_benign | 0.2078 | benign | -1.267 | Destabilizing | 1.0 | D | 0.611 | neutral | D | 0.547218992 | None | None | N |
| E/R | 0.6944 | likely_pathogenic | 0.6411 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| E/S | 0.3146 | likely_benign | 0.2922 | benign | -1.82 | Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| E/T | 0.3541 | ambiguous | 0.3292 | benign | -1.503 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/V | 0.4013 | ambiguous | 0.3823 | ambiguous | -0.266 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.51445276 | None | None | N |
| E/W | 0.9779 | likely_pathogenic | 0.9706 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| E/Y | 0.8779 | likely_pathogenic | 0.8535 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.765 | 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.