Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31481 | 94666;94667;94668 | chr2:178547084;178547083;178547082 | chr2:179411811;179411810;179411809 |
| N2AB | 29840 | 89743;89744;89745 | chr2:178547084;178547083;178547082 | chr2:179411811;179411810;179411809 |
| N2A | 28913 | 86962;86963;86964 | chr2:178547084;178547083;178547082 | chr2:179411811;179411810;179411809 |
| N2B | 22416 | 67471;67472;67473 | chr2:178547084;178547083;178547082 | chr2:179411811;179411810;179411809 |
| Novex-1 | 22541 | 67846;67847;67848 | chr2:178547084;178547083;178547082 | chr2:179411811;179411810;179411809 |
| Novex-2 | 22608 | 68047;68048;68049 | chr2:178547084;178547083;178547082 | chr2:179411811;179411810;179411809 |
| 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/L | None | None | 0.999 | N | 0.682 | 0.555 | 0.433491693731 | gnomAD-4.0.0 | 1.16316E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43918E-05 | 0 | 1.65662E-05 |
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 | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -3.121 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| F/C | 0.9828 | likely_pathogenic | 0.9836 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.547466924 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.89 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.649 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/G | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -3.592 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| F/H | 0.9906 | likely_pathogenic | 0.9908 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| F/I | 0.9685 | likely_pathogenic | 0.9691 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.499592032 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.535 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/L | 0.9961 | likely_pathogenic | 0.9966 | pathogenic | -1.553 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | N | 0.511063696 | None | None | N |
| F/M | 0.9856 | likely_pathogenic | 0.9872 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -3.199 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.061 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/R | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/S | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -3.725 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.547466924 | None | None | N |
| F/T | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.361 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/V | 0.9692 | likely_pathogenic | 0.9696 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.493485511 | None | None | N |
| F/W | 0.9241 | likely_pathogenic | 0.9231 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| F/Y | 0.5416 | ambiguous | 0.4859 | ambiguous | -1.154 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.481188743 | 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.