Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16783 | 50572;50573;50574 | chr2:178612064;178612063;178612062 | chr2:179476791;179476790;179476789 |
| N2AB | 15142 | 45649;45650;45651 | chr2:178612064;178612063;178612062 | chr2:179476791;179476790;179476789 |
| N2A | 14215 | 42868;42869;42870 | chr2:178612064;178612063;178612062 | chr2:179476791;179476790;179476789 |
| N2B | 7718 | 23377;23378;23379 | chr2:178612064;178612063;178612062 | chr2:179476791;179476790;179476789 |
| Novex-1 | 7843 | 23752;23753;23754 | chr2:178612064;178612063;178612062 | chr2:179476791;179476790;179476789 |
| Novex-2 | 7910 | 23953;23954;23955 | chr2:178612064;178612063;178612062 | chr2:179476791;179476790;179476789 |
| 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/T | rs950940404  |
-2.095 | 0.978 | D | 0.745 | 0.535 | None | gnomAD-2.1.1 | 8.21E-06 | None | None | None | None | I | None | 1.30839E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs950940404 |
-2.095 | 0.978 | D | 0.745 | 0.535 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs950940404 |
-2.095 | 0.978 | D | 0.745 | 0.535 | None | gnomAD-4.0.0 | 6.43638E-06 | None | None | None | None | I | None | 5.0863E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.4014E-06 | 0 | 2.85649E-05 |
| I/V | rs773959706 |
-1.564 | 0.198 | N | 0.229 | 0.138 | 0.46435556306 | gnomAD-2.1.1 | 8.2E-06 | None | None | None | None | I | None | 0 | 5.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs773959706 |
-1.564 | 0.198 | N | 0.229 | 0.138 | 0.46435556306 | gnomAD-4.0.0 | 2.05779E-06 | None | None | None | None | I | None | 0 | 4.51916E-05 | None | 0 | 0 | None | 0 | 0 | 9.0061E-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 | 0.989 | likely_pathogenic | 0.988 | pathogenic | -2.502 | Highly Destabilizing | 0.983 | D | 0.647 | neutral | None | None | None | None | I |
| I/C | 0.9936 | likely_pathogenic | 0.991 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| I/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.98 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
| I/E | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -2.845 | Highly Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | I |
| I/F | 0.9402 | likely_pathogenic | 0.9339 | pathogenic | -1.534 | Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | I |
| I/G | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.947 | Highly Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | I |
| I/H | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | -2.436 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| I/K | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -2.007 | Highly Destabilizing | 0.999 | D | 0.813 | deleterious | D | 0.717903945 | None | None | I |
| I/L | 0.5548 | ambiguous | 0.532 | ambiguous | -1.24 | Destabilizing | 0.798 | D | 0.416 | neutral | N | 0.475903497 | None | None | I |
| I/M | 0.7512 | likely_pathogenic | 0.7345 | pathogenic | -0.995 | Destabilizing | 0.997 | D | 0.721 | prob.delet. | D | 0.715830699 | None | None | I |
| I/N | 0.9923 | likely_pathogenic | 0.9914 | pathogenic | -2.089 | Highly Destabilizing | 0.999 | D | 0.818 | deleterious | None | None | None | None | I |
| I/P | 0.9851 | likely_pathogenic | 0.9838 | pathogenic | -1.641 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | I |
| I/Q | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -2.099 | Highly Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | I |
| I/R | 0.9947 | likely_pathogenic | 0.9941 | pathogenic | -1.515 | Destabilizing | 0.999 | D | 0.817 | deleterious | D | 0.717903945 | None | None | I |
| I/S | 0.9904 | likely_pathogenic | 0.9898 | pathogenic | -2.647 | Highly Destabilizing | 0.998 | D | 0.788 | deleterious | None | None | None | None | I |
| I/T | 0.9817 | likely_pathogenic | 0.9787 | pathogenic | -2.404 | Highly Destabilizing | 0.978 | D | 0.745 | deleterious | D | 0.678911218 | None | None | I |
| I/V | 0.1757 | likely_benign | 0.15 | benign | -1.641 | Destabilizing | 0.198 | N | 0.229 | neutral | N | 0.478538948 | None | None | I |
| I/W | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| I/Y | 0.9952 | likely_pathogenic | 0.9949 | pathogenic | -1.721 | Destabilizing | 0.999 | D | 0.772 | 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.