Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1556 | 4891;4892;4893 | chr2:178777297;178777296;178777295 | chr2:179642024;179642023;179642022 |
| N2AB | 1556 | 4891;4892;4893 | chr2:178777297;178777296;178777295 | chr2:179642024;179642023;179642022 |
| N2A | 1556 | 4891;4892;4893 | chr2:178777297;178777296;178777295 | chr2:179642024;179642023;179642022 |
| N2B | 1510 | 4753;4754;4755 | chr2:178777297;178777296;178777295 | chr2:179642024;179642023;179642022 |
| Novex-1 | 1510 | 4753;4754;4755 | chr2:178777297;178777296;178777295 | chr2:179642024;179642023;179642022 |
| Novex-2 | 1510 | 4753;4754;4755 | chr2:178777297;178777296;178777295 | chr2:179642024;179642023;179642022 |
| Novex-3 | 1556 | 4891;4892;4893 | chr2:178777297;178777296;178777295 | chr2:179642024;179642023;179642022 |
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 | rs569025335  |
-0.654 | 1.0 | D | 0.89 | 0.744 | None | gnomAD-2.1.1 | 7.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| P/L | rs569025335 |
-0.654 | 1.0 | D | 0.89 | 0.744 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07727E-04 | 0 |
| P/L | rs569025335 |
-0.654 | 1.0 | D | 0.89 | 0.744 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| P/L | rs569025335 |
-0.654 | 1.0 | D | 0.89 | 0.744 | None | gnomAD-4.0.0 | 9.91446E-06 | None | None | None | None | N | None | 0 | 3.33433E-05 | None | 0 | 0 | None | 0 | 0 | 1.10175E-05 | 1.0981E-05 | 0 |
| P/Q | None | -1.363 | 1.0 | D | 0.9 | 0.777 | 0.717363470281 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 1.64258E-04 |
| P/Q | None | -1.363 | 1.0 | D | 0.9 | 0.777 | 0.717363470281 | gnomAD-4.0.0 | 2.73681E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87596E-05 | 0 | 2.69804E-06 | 0 | 0 |
| P/R | rs569025335 |
None | 1.0 | D | 0.898 | 0.886 | 0.782170906113 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs569025335 |
None | 1.0 | D | 0.898 | 0.886 | 0.782170906113 | gnomAD-4.0.0 | 1.2394E-06 | None | None | None | None | N | None | 0 | 3.33545E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9155 | likely_pathogenic | 0.8122 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.703098355 | None | None | N |
| P/C | 0.9974 | likely_pathogenic | 0.9933 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -2.409 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/E | 0.999 | likely_pathogenic | 0.9978 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9996 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/G | 0.9931 | likely_pathogenic | 0.9873 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/H | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/I | 0.9973 | likely_pathogenic | 0.9902 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/K | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/L | 0.9856 | likely_pathogenic | 0.9705 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.761065429 | None | None | N |
| P/M | 0.9984 | likely_pathogenic | 0.996 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9982 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.9987 | likely_pathogenic | 0.9971 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.760557458 | None | None | N |
| P/R | 0.998 | likely_pathogenic | 0.9965 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.760557458 | None | None | N |
| P/S | 0.9939 | likely_pathogenic | 0.9838 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.7613603 | None | None | N |
| P/T | 0.991 | likely_pathogenic | 0.973 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.761065429 | None | None | N |
| P/V | 0.9874 | likely_pathogenic | 0.9614 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.9 | 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.