Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20392 | 61399;61400;61401 | chr2:178590551;178590550;178590549 | chr2:179455278;179455277;179455276 |
| N2AB | 18751 | 56476;56477;56478 | chr2:178590551;178590550;178590549 | chr2:179455278;179455277;179455276 |
| N2A | 17824 | 53695;53696;53697 | chr2:178590551;178590550;178590549 | chr2:179455278;179455277;179455276 |
| N2B | 11327 | 34204;34205;34206 | chr2:178590551;178590550;178590549 | chr2:179455278;179455277;179455276 |
| Novex-1 | 11452 | 34579;34580;34581 | chr2:178590551;178590550;178590549 | chr2:179455278;179455277;179455276 |
| Novex-2 | 11519 | 34780;34781;34782 | chr2:178590551;178590550;178590549 | chr2:179455278;179455277;179455276 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | rs778062181  |
-3.639 | 1.0 | D | 0.843 | 0.886 | 0.822295905232 | gnomAD-2.1.1 | 6.47E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.26593E-04 | None | 0 | 0 | 0 |
| W/G | rs778062181 |
-3.639 | 1.0 | D | 0.843 | 0.886 | 0.822295905232 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.21118E-04 | 0 |
| W/G | rs778062181 |
-3.639 | 1.0 | D | 0.843 | 0.886 | 0.822295905232 | gnomAD-4.0.0 | 2.97671E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.28157E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.325 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/C | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.677455951 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.795 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.685 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/F | 0.8489 | likely_pathogenic | 0.8294 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/G | 0.9947 | likely_pathogenic | 0.9902 | pathogenic | -3.566 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.677455951 | None | None | N |
| W/H | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.511 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/I | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -2.393 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/K | 1.0 | likely_pathogenic | 1.0 | pathogenic | -2.906 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/L | 0.995 | likely_pathogenic | 0.992 | pathogenic | -2.393 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.677254147 | None | None | N |
| W/M | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.652 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.734 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.485 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/R | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.566 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.677455951 | None | None | N |
| W/S | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -3.765 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.66143659 | None | None | N |
| W/T | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.582 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/V | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -2.734 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/Y | 0.9855 | likely_pathogenic | 0.9825 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.84 | 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.