Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32400 | 97423;97424;97425 | chr2:178542558;178542557;178542556 | chr2:179407285;179407284;179407283 |
| N2AB | 30759 | 92500;92501;92502 | chr2:178542558;178542557;178542556 | chr2:179407285;179407284;179407283 |
| N2A | 29832 | 89719;89720;89721 | chr2:178542558;178542557;178542556 | chr2:179407285;179407284;179407283 |
| N2B | 23335 | 70228;70229;70230 | chr2:178542558;178542557;178542556 | chr2:179407285;179407284;179407283 |
| Novex-1 | 23460 | 70603;70604;70605 | chr2:178542558;178542557;178542556 | chr2:179407285;179407284;179407283 |
| Novex-2 | 23527 | 70804;70805;70806 | chr2:178542558;178542557;178542556 | chr2:179407285;179407284;179407283 |
| 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 | rs373876117  |
-2.028 | 0.999 | D | 0.851 | 0.667 | 0.704848103458 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.1E-06 | 0 |
| P/A | rs373876117 |
-2.028 | 0.999 | D | 0.851 | 0.667 | 0.704848103458 | gnomAD-4.0.0 | 4.83393E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.34932E-06 | 0 | 0 |
| P/T | rs373876117 |
-2.384 | 1.0 | D | 0.885 | 0.679 | None | gnomAD-2.1.1 | 1.16761E-04 | None | None | None | None | N | None | 0 | 1.7188E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.75531E-04 | 5.74218E-04 |
| P/T | rs373876117 |
-2.384 | 1.0 | D | 0.885 | 0.679 | None | gnomAD-3.1.2 | 1.18343E-04 | None | None | None | None | N | None | 0 | 3.2774E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.32337E-04 | 0 | 1.91022E-03 |
| P/T | rs373876117 |
-2.384 | 1.0 | D | 0.885 | 0.679 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/T | rs373876117 |
-2.384 | 1.0 | D | 0.885 | 0.679 | None | gnomAD-4.0.0 | 1.28725E-04 | None | None | None | None | N | None | 2.67931E-05 | 2.35603E-04 | None | 0 | 0 | None | 0 | 0 | 1.52074E-04 | 0 | 1.94143E-04 |
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 | 0.9158 | likely_pathogenic | 0.8661 | pathogenic | -1.394 | Destabilizing | 0.999 | D | 0.851 | deleterious | D | 0.608545974 | None | None | N |
| P/C | 0.9948 | likely_pathogenic | 0.9895 | pathogenic | -1.941 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9984 | pathogenic | -3.321 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/E | 0.9977 | likely_pathogenic | 0.9963 | pathogenic | -3.25 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/G | 0.9944 | likely_pathogenic | 0.991 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.9965 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.634689498 | None | None | N |
| P/I | 0.9918 | likely_pathogenic | 0.9848 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/K | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/L | 0.9774 | likely_pathogenic | 0.9614 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.596100164 | None | None | N |
| P/M | 0.9964 | likely_pathogenic | 0.993 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9982 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/Q | 0.997 | likely_pathogenic | 0.9949 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/R | 0.9947 | likely_pathogenic | 0.9919 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.634487694 | None | None | N |
| P/S | 0.9929 | likely_pathogenic | 0.9866 | pathogenic | -2.056 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.618064724 | None | None | N |
| P/T | 0.987 | likely_pathogenic | 0.9733 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.618468333 | None | None | N |
| P/V | 0.9764 | likely_pathogenic | 0.958 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.882 | 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.