Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17370 | 52333;52334;52335 | chr2:178608903;178608902;178608901 | chr2:179473630;179473629;179473628 |
| N2AB | 15729 | 47410;47411;47412 | chr2:178608903;178608902;178608901 | chr2:179473630;179473629;179473628 |
| N2A | 14802 | 44629;44630;44631 | chr2:178608903;178608902;178608901 | chr2:179473630;179473629;179473628 |
| N2B | 8305 | 25138;25139;25140 | chr2:178608903;178608902;178608901 | chr2:179473630;179473629;179473628 |
| Novex-1 | 8430 | 25513;25514;25515 | chr2:178608903;178608902;178608901 | chr2:179473630;179473629;179473628 |
| Novex-2 | 8497 | 25714;25715;25716 | chr2:178608903;178608902;178608901 | chr2:179473630;179473629;179473628 |
| 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 | None | None | 0.999 | D | 0.828 | 0.771 | 0.738588929954 | gnomAD-4.0.0 | 6.86945E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00139E-07 | 0 | 0 |
| P/L | rs773071032  |
-0.48 | 1.0 | D | 0.824 | 0.803 | 0.877379728821 | gnomAD-2.1.1 | 1.82E-05 | None | None | None | None | N | None | 4.15E-05 | 2.85E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.36E-05 | 0 |
| P/L | rs773071032 |
-0.48 | 1.0 | D | 0.824 | 0.803 | 0.877379728821 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs773071032 |
-0.48 | 1.0 | D | 0.824 | 0.803 | 0.877379728821 | gnomAD-4.0.0 | 1.05754E-05 | None | None | None | None | N | None | 1.34063E-05 | 3.35278E-05 | None | 0 | 2.23754E-05 | None | 0 | 0 | 8.48283E-06 | 1.10261E-05 | 3.21058E-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 | 0.9348 | likely_pathogenic | 0.9334 | pathogenic | -1.279 | Destabilizing | 0.999 | D | 0.828 | deleterious | D | 0.6137875 | None | None | N |
| P/C | 0.9951 | likely_pathogenic | 0.9954 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.291 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/E | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -3.245 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/F | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/G | 0.9971 | likely_pathogenic | 0.997 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/H | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| P/I | 0.9965 | likely_pathogenic | 0.9974 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/K | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/L | 0.9892 | likely_pathogenic | 0.9915 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.620923884 | None | None | N |
| P/M | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/N | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/Q | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.6466638 | None | None | N |
| P/R | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.646461995 | None | None | N |
| P/S | 0.9939 | likely_pathogenic | 0.9937 | pathogenic | -1.952 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.646260191 | None | None | N |
| P/T | 0.9908 | likely_pathogenic | 0.9905 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.646461995 | None | None | N |
| P/V | 0.9871 | likely_pathogenic | 0.9891 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/Y | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.845 | 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.