Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16627 | 50104;50105;50106 | chr2:178612842;178612841;178612840 | chr2:179477569;179477568;179477567 |
| N2AB | 14986 | 45181;45182;45183 | chr2:178612842;178612841;178612840 | chr2:179477569;179477568;179477567 |
| N2A | 14059 | 42400;42401;42402 | chr2:178612842;178612841;178612840 | chr2:179477569;179477568;179477567 |
| N2B | 7562 | 22909;22910;22911 | chr2:178612842;178612841;178612840 | chr2:179477569;179477568;179477567 |
| Novex-1 | 7687 | 23284;23285;23286 | chr2:178612842;178612841;178612840 | chr2:179477569;179477568;179477567 |
| Novex-2 | 7754 | 23485;23486;23487 | chr2:178612842;178612841;178612840 | chr2:179477569;179477568;179477567 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs1037960850  |
None | 1.0 | D | 0.601 | 0.7 | 0.612202403371 | gnomAD-4.0.0 | 2.0541E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69955E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9063 | likely_pathogenic | 0.9075 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/D | 0.9974 | likely_pathogenic | 0.9988 | pathogenic | -3.109 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.805890938 | None | None | N |
| A/E | 0.9961 | likely_pathogenic | 0.998 | pathogenic | -2.895 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/F | 0.9927 | likely_pathogenic | 0.9955 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| A/G | 0.5992 | likely_pathogenic | 0.6448 | pathogenic | -2.295 | Highly Destabilizing | 1.0 | D | 0.601 | neutral | D | 0.683247959 | None | None | N |
| A/H | 0.9976 | likely_pathogenic | 0.9987 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| A/I | 0.9812 | likely_pathogenic | 0.9874 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9997 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/L | 0.9458 | likely_pathogenic | 0.958 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/M | 0.9723 | likely_pathogenic | 0.9791 | pathogenic | -1.3 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/N | 0.994 | likely_pathogenic | 0.9966 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| A/P | 0.9846 | likely_pathogenic | 0.9921 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.751223527 | None | None | N |
| A/Q | 0.9938 | likely_pathogenic | 0.9962 | pathogenic | -1.832 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/R | 0.9957 | likely_pathogenic | 0.9981 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/S | 0.4444 | ambiguous | 0.4853 | ambiguous | -2.395 | Highly Destabilizing | 1.0 | D | 0.587 | neutral | D | 0.649801854 | None | None | N |
| A/T | 0.843 | likely_pathogenic | 0.8784 | pathogenic | -2.076 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.743588222 | None | None | N |
| A/V | 0.8839 | likely_pathogenic | 0.9175 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.709753912 | None | None | N |
| A/W | 0.9991 | likely_pathogenic | 0.9996 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/Y | 0.997 | likely_pathogenic | 0.9984 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | 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.