Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25831 | 77716;77717;77718 | chr2:178568641;178568640;178568639 | chr2:179433368;179433367;179433366 |
| N2AB | 24190 | 72793;72794;72795 | chr2:178568641;178568640;178568639 | chr2:179433368;179433367;179433366 |
| N2A | 23263 | 70012;70013;70014 | chr2:178568641;178568640;178568639 | chr2:179433368;179433367;179433366 |
| N2B | 16766 | 50521;50522;50523 | chr2:178568641;178568640;178568639 | chr2:179433368;179433367;179433366 |
| Novex-1 | 16891 | 50896;50897;50898 | chr2:178568641;178568640;178568639 | chr2:179433368;179433367;179433366 |
| Novex-2 | 16958 | 51097;51098;51099 | chr2:178568641;178568640;178568639 | chr2:179433368;179433367;179433366 |
| 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/R | None | None | 1.0 | D | 0.889 | 0.943 | 0.94782245772 | gnomAD-4.0.0 | 9.6026E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.05E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9927 | likely_pathogenic | 0.9923 | pathogenic | -2.636 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/C | 0.9953 | likely_pathogenic | 0.9948 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.714209355 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.358 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/F | 0.538 | ambiguous | 0.517 | ambiguous | -1.517 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/G | 0.9884 | likely_pathogenic | 0.9874 | pathogenic | -2.902 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.714007551 | None | None | N |
| W/H | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/I | 0.9411 | likely_pathogenic | 0.9373 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/L | 0.8685 | likely_pathogenic | 0.8611 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.697756025 | None | None | N |
| W/M | 0.9713 | likely_pathogenic | 0.9692 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/N | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.806 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.01 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.557 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.714209355 | None | None | N |
| W/S | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -3.131 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.714209355 | None | None | N |
| W/T | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -2.922 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/V | 0.9471 | likely_pathogenic | 0.9438 | pathogenic | -2.01 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/Y | 0.8998 | likely_pathogenic | 0.8893 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.802 | 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.