Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35926 | 108001;108002;108003 | chr2:178527212;178527211;178527210 | chr2:179391939;179391938;179391937 |
| N2AB | 34285 | 103078;103079;103080 | chr2:178527212;178527211;178527210 | chr2:179391939;179391938;179391937 |
| N2A | 33358 | 100297;100298;100299 | chr2:178527212;178527211;178527210 | chr2:179391939;179391938;179391937 |
| N2B | 26861 | 80806;80807;80808 | chr2:178527212;178527211;178527210 | chr2:179391939;179391938;179391937 |
| Novex-1 | 26986 | 81181;81182;81183 | chr2:178527212;178527211;178527210 | chr2:179391939;179391938;179391937 |
| Novex-2 | 27053 | 81382;81383;81384 | chr2:178527212;178527211;178527210 | chr2:179391939;179391938;179391937 |
| 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/L | rs749774302  |
-0.677 | 1.0 | N | 0.807 | 0.555 | 0.827018898375 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | -1.241(OBSL1) -1.024(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| P/L | rs749774302 |
-0.677 | 1.0 | N | 0.807 | 0.555 | 0.827018898375 | gnomAD-4.0.0 | 3.18213E-06 | None | None | None | -1.241(OBSL1) -1.024(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71553E-06 | 0 | 0 |
| P/R | rs749774302 |
None | 1.0 | D | 0.798 | 0.612 | 0.796347251703 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | -1.45(OBSL1) -1.08(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85776E-06 | 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 | 0.6304 | likely_pathogenic | 0.552 | ambiguous | -1.816 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.524358326 | None | -1.203(OBSL1) -0.568(OBSCN) | N |
| P/C | 0.9795 | likely_pathogenic | 0.9725 | pathogenic | -1.454 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | -1.584(OBSL1) -1.118(OBSCN) | N |
| P/D | 0.9968 | likely_pathogenic | 0.9938 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -1.414(OBSL1) -0.898(OBSCN) | N |
| P/E | 0.9861 | likely_pathogenic | 0.976 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | -1.438(OBSL1) -1.073(OBSCN) | N |
| P/F | 0.9966 | likely_pathogenic | 0.9951 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -1.198(OBSL1) -1.067(OBSCN) | N |
| P/G | 0.9675 | likely_pathogenic | 0.9508 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | -1.196(OBSL1) -0.434(OBSCN) | N |
| P/H | 0.9869 | likely_pathogenic | 0.9777 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | -1.154(OBSL1) -0.257(OBSCN) | N |
| P/I | 0.9585 | likely_pathogenic | 0.9492 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | -1.241(OBSL1) -1.024(OBSCN) | N |
| P/K | 0.9913 | likely_pathogenic | 0.9855 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -1.494(OBSL1) -1.099(OBSCN) | N |
| P/L | 0.8642 | likely_pathogenic | 0.8367 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.520644889 | None | -1.241(OBSL1) -1.024(OBSCN) | N |
| P/M | 0.9777 | likely_pathogenic | 0.9698 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | -1.442(OBSL1) -1.255(OBSCN) | N |
| P/N | 0.9945 | likely_pathogenic | 0.9905 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | -1.359(OBSL1) -0.718(OBSCN) | N |
| P/Q | 0.9708 | likely_pathogenic | 0.9509 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.568657912 | None | -1.41(OBSL1) -0.852(OBSCN) | N |
| P/R | 0.9701 | likely_pathogenic | 0.9538 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.557301607 | None | -1.45(OBSL1) -1.08(OBSCN) | N |
| P/S | 0.9267 | likely_pathogenic | 0.888 | pathogenic | -1.999 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.538690373 | None | -1.394(OBSL1) -0.345(OBSCN) | N |
| P/T | 0.8871 | likely_pathogenic | 0.8354 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.536221611 | None | -1.418(OBSL1) -0.546(OBSCN) | N |
| P/V | 0.884 | likely_pathogenic | 0.8609 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | -1.226(OBSL1) -0.866(OBSCN) | N |
| P/W | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | -1.263(OBSL1) -1.454(OBSCN) | N |
| P/Y | 0.9971 | likely_pathogenic | 0.9952 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | -1.173(OBSL1) -1.102(OBSCN) | 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.