Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 957 | 3094;3095;3096 | chr2:178783037;178783036;178783035 | chr2:179647764;179647763;179647762 |
| N2AB | 957 | 3094;3095;3096 | chr2:178783037;178783036;178783035 | chr2:179647764;179647763;179647762 |
| N2A | 957 | 3094;3095;3096 | chr2:178783037;178783036;178783035 | chr2:179647764;179647763;179647762 |
| N2B | 911 | 2956;2957;2958 | chr2:178783037;178783036;178783035 | chr2:179647764;179647763;179647762 |
| Novex-1 | 911 | 2956;2957;2958 | chr2:178783037;178783036;178783035 | chr2:179647764;179647763;179647762 |
| Novex-2 | 911 | 2956;2957;2958 | chr2:178783037;178783036;178783035 | chr2:179647764;179647763;179647762 |
| Novex-3 | 957 | 3094;3095;3096 | chr2:178783037;178783036;178783035 | chr2:179647764;179647763;179647762 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 1.0 | D | 0.843 | 0.662 | 0.922720591454 | gnomAD-4.0.0 | 2.40067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62503E-06 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.849 | 0.529 | 0.657325010897 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9458 | likely_pathogenic | 0.9664 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.790749884 | None | None | N |
| G/C | 0.9922 | likely_pathogenic | 0.9958 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.790219992 | None | None | N |
| G/D | 0.9689 | likely_pathogenic | 0.9828 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.674207089 | None | None | N |
| G/E | 0.9771 | likely_pathogenic | 0.9876 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/F | 0.9981 | likely_pathogenic | 0.9989 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/H | 0.9962 | likely_pathogenic | 0.998 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/I | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/K | 0.9896 | likely_pathogenic | 0.9941 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/L | 0.9952 | likely_pathogenic | 0.9971 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/M | 0.9956 | likely_pathogenic | 0.9974 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/N | 0.967 | likely_pathogenic | 0.9819 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/Q | 0.9873 | likely_pathogenic | 0.993 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/R | 0.9849 | likely_pathogenic | 0.9918 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.743983116 | None | None | N |
| G/S | 0.9031 | likely_pathogenic | 0.9456 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.679207165 | None | None | N |
| G/T | 0.9806 | likely_pathogenic | 0.989 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/V | 0.996 | likely_pathogenic | 0.9979 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.769900042 | None | None | N |
| G/W | 0.9934 | likely_pathogenic | 0.9962 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/Y | 0.9957 | likely_pathogenic | 0.9976 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.851 | 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.