Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23314 | 70165;70166;70167 | chr2:178576192;178576191;178576190 | chr2:179440919;179440918;179440917 |
| N2AB | 21673 | 65242;65243;65244 | chr2:178576192;178576191;178576190 | chr2:179440919;179440918;179440917 |
| N2A | 20746 | 62461;62462;62463 | chr2:178576192;178576191;178576190 | chr2:179440919;179440918;179440917 |
| N2B | 14249 | 42970;42971;42972 | chr2:178576192;178576191;178576190 | chr2:179440919;179440918;179440917 |
| Novex-1 | 14374 | 43345;43346;43347 | chr2:178576192;178576191;178576190 | chr2:179440919;179440918;179440917 |
| Novex-2 | 14441 | 43546;43547;43548 | chr2:178576192;178576191;178576190 | chr2:179440919;179440918;179440917 |
| 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 | 0.683 | 0.537 | 0.381580015636 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 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 | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -3.001 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| F/C | 0.9747 | likely_pathogenic | 0.9742 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.538579381 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -4.002 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.768 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/G | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -3.458 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/H | 0.9946 | likely_pathogenic | 0.9948 | pathogenic | -2.326 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/I | 0.7868 | likely_pathogenic | 0.7794 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.494160755 | None | None | N |
| F/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/L | 0.9809 | likely_pathogenic | 0.9806 | pathogenic | -1.481 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.500036559 | None | None | N |
| F/M | 0.9446 | likely_pathogenic | 0.9482 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/N | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -3.351 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/Q | 0.999 | likely_pathogenic | 0.999 | pathogenic | -3.204 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/R | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/S | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -3.81 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.549935686 | None | None | N |
| F/T | 0.997 | likely_pathogenic | 0.9969 | pathogenic | -3.454 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/V | 0.866 | likely_pathogenic | 0.8667 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.484597968 | None | None | N |
| F/W | 0.9234 | likely_pathogenic | 0.9222 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| F/Y | 0.6701 | likely_pathogenic | 0.6667 | pathogenic | -1.19 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.507686789 | 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.