Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31582 | 94969;94970;94971 | chr2:178546684;178546683;178546682 | chr2:179411411;179411410;179411409 |
| N2AB | 29941 | 90046;90047;90048 | chr2:178546684;178546683;178546682 | chr2:179411411;179411410;179411409 |
| N2A | 29014 | 87265;87266;87267 | chr2:178546684;178546683;178546682 | chr2:179411411;179411410;179411409 |
| N2B | 22517 | 67774;67775;67776 | chr2:178546684;178546683;178546682 | chr2:179411411;179411410;179411409 |
| Novex-1 | 22642 | 68149;68150;68151 | chr2:178546684;178546683;178546682 | chr2:179411411;179411410;179411409 |
| Novex-2 | 22709 | 68350;68351;68352 | chr2:178546684;178546683;178546682 | chr2:179411411;179411410;179411409 |
| 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 | 0.135 | N | 0.365 | 0.423 | 0.408988072059 | gnomAD-4.0.0 | 6.84224E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99494E-07 | 0 | 0 |
| F/V | rs1559151131  |
None | 0.961 | N | 0.825 | 0.512 | 0.796983491231 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| F/V | rs1559151131 |
None | 0.961 | N | 0.825 | 0.512 | 0.796983491231 | gnomAD-4.0.0 | 9.57913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25929E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -3.169 | Highly Destabilizing | 0.993 | D | 0.845 | deleterious | None | None | None | None | N |
| F/C | 0.9954 | likely_pathogenic | 0.9936 | pathogenic | -2.149 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.566723268 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.938 | Highly Destabilizing | 0.999 | D | 0.891 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.695 | Highly Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| F/G | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -3.646 | Highly Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| F/H | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -2.403 | Highly Destabilizing | 0.998 | D | 0.841 | deleterious | None | None | None | None | N |
| F/I | 0.9715 | likely_pathogenic | 0.9592 | pathogenic | -1.583 | Destabilizing | 0.961 | D | 0.751 | deleterious | N | 0.513581683 | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.652 | Highly Destabilizing | 0.998 | D | 0.89 | deleterious | None | None | None | None | N |
| F/L | 0.9958 | likely_pathogenic | 0.9941 | pathogenic | -1.583 | Destabilizing | 0.135 | N | 0.365 | neutral | N | 0.517811645 | None | None | N |
| F/M | 0.9856 | likely_pathogenic | 0.9808 | pathogenic | -1.301 | Destabilizing | 0.996 | D | 0.725 | prob.delet. | None | None | None | None | N |
| F/N | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -3.318 | Highly Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -2.129 | Highly Destabilizing | 0.999 | D | 0.898 | deleterious | None | None | None | None | N |
| F/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -3.175 | Highly Destabilizing | 0.999 | D | 0.901 | deleterious | None | None | None | None | N |
| F/R | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -2.264 | Highly Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| F/S | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.856 | Highly Destabilizing | 0.997 | D | 0.873 | deleterious | D | 0.566723268 | None | None | N |
| F/T | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.488 | Highly Destabilizing | 0.998 | D | 0.873 | deleterious | None | None | None | None | N |
| F/V | 0.9824 | likely_pathogenic | 0.9769 | pathogenic | -2.129 | Highly Destabilizing | 0.961 | D | 0.825 | deleterious | N | 0.498916787 | None | None | N |
| F/W | 0.9677 | likely_pathogenic | 0.9615 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| F/Y | 0.7252 | likely_pathogenic | 0.6577 | pathogenic | -1.197 | Destabilizing | 0.219 | N | 0.2 | neutral | N | 0.492874216 | 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.