Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17150 | 51673;51674;51675 | chr2:178609975;178609974;178609973 | chr2:179474702;179474701;179474700 |
| N2AB | 15509 | 46750;46751;46752 | chr2:178609975;178609974;178609973 | chr2:179474702;179474701;179474700 |
| N2A | 14582 | 43969;43970;43971 | chr2:178609975;178609974;178609973 | chr2:179474702;179474701;179474700 |
| N2B | 8085 | 24478;24479;24480 | chr2:178609975;178609974;178609973 | chr2:179474702;179474701;179474700 |
| Novex-1 | 8210 | 24853;24854;24855 | chr2:178609975;178609974;178609973 | chr2:179474702;179474701;179474700 |
| Novex-2 | 8277 | 25054;25055;25056 | chr2:178609975;178609974;178609973 | chr2:179474702;179474701;179474700 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs764792715  |
-0.838 | 1.0 | D | 0.911 | 0.503 | 0.673603381577 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| P/L | rs764792715 |
-0.838 | 1.0 | D | 0.911 | 0.503 | 0.673603381577 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs764792715 |
-0.838 | 1.0 | D | 0.911 | 0.503 | 0.673603381577 | gnomAD-4.0.0 | 3.72502E-06 | None | None | None | None | I | None | 4.02209E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69684E-06 | 0 | 1.60519E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1732 | likely_benign | 0.1631 | benign | -1.844 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.500332971 | None | None | I |
| P/C | 0.8105 | likely_pathogenic | 0.8115 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| P/D | 0.9785 | likely_pathogenic | 0.9757 | pathogenic | -2.344 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| P/E | 0.9112 | likely_pathogenic | 0.8934 | pathogenic | -2.312 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| P/F | 0.9412 | likely_pathogenic | 0.9328 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| P/G | 0.837 | likely_pathogenic | 0.8305 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | I |
| P/H | 0.7971 | likely_pathogenic | 0.7639 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| P/I | 0.8251 | likely_pathogenic | 0.7852 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| P/K | 0.8855 | likely_pathogenic | 0.8531 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| P/L | 0.6576 | likely_pathogenic | 0.5996 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.523318601 | None | None | I |
| P/M | 0.8286 | likely_pathogenic | 0.8073 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| P/N | 0.9303 | likely_pathogenic | 0.9258 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | I |
| P/Q | 0.7328 | likely_pathogenic | 0.6842 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.506402433 | None | None | I |
| P/R | 0.7635 | likely_pathogenic | 0.7067 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.917 | deleterious | N | 0.503946898 | None | None | I |
| P/S | 0.501 | ambiguous | 0.4884 | ambiguous | -1.931 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.476194631 | None | None | I |
| P/T | 0.5747 | likely_pathogenic | 0.5302 | ambiguous | -1.8 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.507669881 | None | None | I |
| P/V | 0.6822 | likely_pathogenic | 0.6335 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| P/W | 0.985 | likely_pathogenic | 0.9825 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| P/Y | 0.9504 | likely_pathogenic | 0.9401 | pathogenic | -1.381 | Destabilizing | 1.0 | D | 0.928 | 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.