Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17792 | 53599;53600;53601 | chr2:178607228;178607227;178607226 | chr2:179471955;179471954;179471953 |
| N2AB | 16151 | 48676;48677;48678 | chr2:178607228;178607227;178607226 | chr2:179471955;179471954;179471953 |
| N2A | 15224 | 45895;45896;45897 | chr2:178607228;178607227;178607226 | chr2:179471955;179471954;179471953 |
| N2B | 8727 | 26404;26405;26406 | chr2:178607228;178607227;178607226 | chr2:179471955;179471954;179471953 |
| Novex-1 | 8852 | 26779;26780;26781 | chr2:178607228;178607227;178607226 | chr2:179471955;179471954;179471953 |
| Novex-2 | 8919 | 26980;26981;26982 | chr2:178607228;178607227;178607226 | chr2:179471955;179471954;179471953 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | N | 0.82 | 0.527 | 0.61225159808 | gnomAD-4.0.0 | 3.18607E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72305E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9822 | likely_pathogenic | 0.9677 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.532455952 | None | None | I |
| G/C | 0.9959 | likely_pathogenic | 0.9897 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/D | 0.9987 | likely_pathogenic | 0.9971 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/E | 0.9992 | likely_pathogenic | 0.998 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.531695484 | None | None | I |
| G/F | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/H | 0.9996 | likely_pathogenic | 0.9989 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/I | 0.9995 | likely_pathogenic | 0.9987 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/K | 0.9992 | likely_pathogenic | 0.9981 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/L | 0.9992 | likely_pathogenic | 0.9983 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/M | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/N | 0.9992 | likely_pathogenic | 0.9983 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/Q | 0.9994 | likely_pathogenic | 0.9983 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/R | 0.9971 | likely_pathogenic | 0.9922 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.491385597 | None | None | I |
| G/S | 0.9881 | likely_pathogenic | 0.9742 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/T | 0.9982 | likely_pathogenic | 0.9967 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/V | 0.9987 | likely_pathogenic | 0.9973 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.521860116 | None | None | I |
| G/W | 0.9991 | likely_pathogenic | 0.9975 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Y | 0.9995 | likely_pathogenic | 0.9988 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.765 | 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.