Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30249 | 90970;90971;90972 | chr2:178552155;178552154;178552153 | chr2:179416882;179416881;179416880 |
| N2AB | 28608 | 86047;86048;86049 | chr2:178552155;178552154;178552153 | chr2:179416882;179416881;179416880 |
| N2A | 27681 | 83266;83267;83268 | chr2:178552155;178552154;178552153 | chr2:179416882;179416881;179416880 |
| N2B | 21184 | 63775;63776;63777 | chr2:178552155;178552154;178552153 | chr2:179416882;179416881;179416880 |
| Novex-1 | 21309 | 64150;64151;64152 | chr2:178552155;178552154;178552153 | chr2:179416882;179416881;179416880 |
| Novex-2 | 21376 | 64351;64352;64353 | chr2:178552155;178552154;178552153 | chr2:179416882;179416881;179416880 |
| 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/A | rs751971702  |
-1.821 | 1.0 | D | 0.787 | 0.69 | 0.593798965771 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/A | rs751971702 |
-1.821 | 1.0 | D | 0.787 | 0.69 | 0.593798965771 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/A | rs751971702 |
-1.821 | 1.0 | D | 0.787 | 0.69 | 0.593798965771 | gnomAD-4.0.0 | 1.8593E-06 | None | None | None | None | N | None | 1.33615E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69523E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.803 | 0.628 | 0.582356428975 | gnomAD-4.0.0 | 6.84209E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15966E-05 | 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 | 0.8383 | likely_pathogenic | 0.8181 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.607367303 | None | None | N |
| P/C | 0.9859 | likely_pathogenic | 0.9819 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| P/D | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| P/E | 0.9936 | likely_pathogenic | 0.9922 | pathogenic | -1.957 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/G | 0.9872 | likely_pathogenic | 0.9852 | pathogenic | -2.255 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/H | 0.9944 | likely_pathogenic | 0.9939 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.656262963 | None | None | N |
| P/I | 0.9904 | likely_pathogenic | 0.9866 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/K | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/L | 0.956 | likely_pathogenic | 0.9454 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.655253942 | None | None | N |
| P/M | 0.9926 | likely_pathogenic | 0.991 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/Q | 0.9914 | likely_pathogenic | 0.9893 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/R | 0.9925 | likely_pathogenic | 0.9917 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.639809634 | None | None | N |
| P/S | 0.9723 | likely_pathogenic | 0.9655 | pathogenic | -2.02 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.578639607 | None | None | N |
| P/T | 0.9558 | likely_pathogenic | 0.9462 | pathogenic | -1.87 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.618480846 | None | None | N |
| P/V | 0.9712 | likely_pathogenic | 0.9627 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.863 | 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.