Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21732 | 65419;65420;65421 | chr2:178584357;178584356;178584355 | chr2:179449084;179449083;179449082 |
| N2AB | 20091 | 60496;60497;60498 | chr2:178584357;178584356;178584355 | chr2:179449084;179449083;179449082 |
| N2A | 19164 | 57715;57716;57717 | chr2:178584357;178584356;178584355 | chr2:179449084;179449083;179449082 |
| N2B | 12667 | 38224;38225;38226 | chr2:178584357;178584356;178584355 | chr2:179449084;179449083;179449082 |
| Novex-1 | 12792 | 38599;38600;38601 | chr2:178584357;178584356;178584355 | chr2:179449084;179449083;179449082 |
| Novex-2 | 12859 | 38800;38801;38802 | chr2:178584357;178584356;178584355 | chr2:179449084;179449083;179449082 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 1.0 | D | 0.827 | 0.632 | 0.852628768757 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| F/L | rs397517661  |
-0.995 | 0.999 | N | 0.643 | 0.529 | 0.473853734676 | gnomAD-2.1.1 | 2.62376E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.93063E-03 | None | 0 | 3.58E-05 | 3.32447E-04 |
| F/L | rs397517661 |
-0.995 | 0.999 | N | 0.643 | 0.529 | 0.473853734676 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.03563E-03 | 0 |
| F/L | rs397517661 |
-0.995 | 0.999 | N | 0.643 | 0.529 | 0.473853734676 | gnomAD-4.0.0 | 1.06018E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23314E-05 | None | 0 | 0 | 4.2397E-06 | 1.71421E-03 | 1.44189E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -2.8 | Highly Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| F/C | 0.978 | likely_pathogenic | 0.9739 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.54450441 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.493 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.264 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/G | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -3.257 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| F/H | 0.9914 | likely_pathogenic | 0.9903 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| F/I | 0.9664 | likely_pathogenic | 0.9568 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.483462786 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/L | 0.9968 | likely_pathogenic | 0.9953 | pathogenic | -1.293 | Destabilizing | 0.999 | D | 0.643 | neutral | N | 0.494605282 | None | None | N |
| F/M | 0.9838 | likely_pathogenic | 0.979 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/N | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.836 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/Q | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -2.708 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/R | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/S | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -3.358 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.54450441 | None | None | N |
| F/T | 0.9987 | likely_pathogenic | 0.9984 | pathogenic | -3.011 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/V | 0.9589 | likely_pathogenic | 0.9492 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.480812532 | None | None | N |
| F/W | 0.9381 | likely_pathogenic | 0.9208 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| F/Y | 0.6716 | likely_pathogenic | 0.609 | pathogenic | -0.867 | Destabilizing | 0.999 | D | 0.564 | neutral | N | 0.488924197 | 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.