Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27235 | 81928;81929;81930 | chr2:178564429;178564428;178564427 | chr2:179429156;179429155;179429154 |
| N2AB | 25594 | 77005;77006;77007 | chr2:178564429;178564428;178564427 | chr2:179429156;179429155;179429154 |
| N2A | 24667 | 74224;74225;74226 | chr2:178564429;178564428;178564427 | chr2:179429156;179429155;179429154 |
| N2B | 18170 | 54733;54734;54735 | chr2:178564429;178564428;178564427 | chr2:179429156;179429155;179429154 |
| Novex-1 | 18295 | 55108;55109;55110 | chr2:178564429;178564428;178564427 | chr2:179429156;179429155;179429154 |
| Novex-2 | 18362 | 55309;55310;55311 | chr2:178564429;178564428;178564427 | chr2:179429156;179429155;179429154 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | 1.0 | D | 0.855 | 0.826 | 0.957115942416 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| L/V | None | None | 0.999 | D | 0.841 | 0.537 | 0.858760083385 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9658 | likely_pathogenic | 0.9578 | pathogenic | -2.674 | Highly Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| L/C | 0.9129 | likely_pathogenic | 0.912 | pathogenic | -2.277 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| L/D | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| L/E | 0.9976 | likely_pathogenic | 0.9966 | pathogenic | -2.347 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| L/F | 0.8884 | likely_pathogenic | 0.8747 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.664744077 | None | None | N |
| L/G | 0.9946 | likely_pathogenic | 0.9934 | pathogenic | -3.174 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/H | 0.9957 | likely_pathogenic | 0.9941 | pathogenic | -2.427 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.68180282 | None | None | N |
| L/I | 0.3769 | ambiguous | 0.375 | ambiguous | -1.26 | Destabilizing | 0.999 | D | 0.833 | deleterious | D | 0.612890997 | None | None | N |
| L/K | 0.9965 | likely_pathogenic | 0.995 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/M | 0.5259 | ambiguous | 0.5113 | ambiguous | -1.212 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/N | 0.9962 | likely_pathogenic | 0.9951 | pathogenic | -2.217 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/P | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.68180282 | None | None | N |
| L/Q | 0.9923 | likely_pathogenic | 0.9893 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| L/R | 0.9913 | likely_pathogenic | 0.9876 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.68180282 | None | None | N |
| L/S | 0.9964 | likely_pathogenic | 0.9951 | pathogenic | -3.012 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| L/T | 0.975 | likely_pathogenic | 0.9685 | pathogenic | -2.697 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/V | 0.4548 | ambiguous | 0.4508 | ambiguous | -1.709 | Destabilizing | 0.999 | D | 0.841 | deleterious | D | 0.602554311 | None | None | N |
| L/W | 0.9905 | likely_pathogenic | 0.9885 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| L/Y | 0.9916 | likely_pathogenic | 0.9897 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.831 | 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.