Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34314 | 103165;103166;103167 | chr2:178533675;178533674;178533673 | chr2:179398402;179398401;179398400 |
| N2AB | 32673 | 98242;98243;98244 | chr2:178533675;178533674;178533673 | chr2:179398402;179398401;179398400 |
| N2A | 31746 | 95461;95462;95463 | chr2:178533675;178533674;178533673 | chr2:179398402;179398401;179398400 |
| N2B | 25249 | 75970;75971;75972 | chr2:178533675;178533674;178533673 | chr2:179398402;179398401;179398400 |
| Novex-1 | 25374 | 76345;76346;76347 | chr2:178533675;178533674;178533673 | chr2:179398402;179398401;179398400 |
| Novex-2 | 25441 | 76546;76547;76548 | chr2:178533675;178533674;178533673 | chr2:179398402;179398401;179398400 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.991 | N | 0.674 | 0.406 | 0.115124310173 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs772007737  |
-0.702 | 0.999 | N | 0.843 | 0.434 | 0.386395597597 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| G/V | None | None | 0.999 | N | 0.835 | 0.463 | 0.466230903105 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02352E-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 | 0.7512 | likely_pathogenic | 0.7657 | pathogenic | -0.512 | Destabilizing | 0.991 | D | 0.674 | neutral | N | 0.47042751 | None | None | N |
| G/C | 0.8749 | likely_pathogenic | 0.891 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.485026273 | None | None | N |
| G/D | 0.9 | likely_pathogenic | 0.8916 | pathogenic | -0.443 | Destabilizing | 0.999 | D | 0.857 | deleterious | N | 0.479228901 | None | None | N |
| G/E | 0.9314 | likely_pathogenic | 0.924 | pathogenic | -0.491 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| G/F | 0.966 | likely_pathogenic | 0.9755 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/H | 0.9666 | likely_pathogenic | 0.9693 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/I | 0.9469 | likely_pathogenic | 0.9543 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/K | 0.9779 | likely_pathogenic | 0.9759 | pathogenic | -0.887 | Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| G/L | 0.9508 | likely_pathogenic | 0.961 | pathogenic | -0.118 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| G/M | 0.9642 | likely_pathogenic | 0.9688 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/N | 0.8981 | likely_pathogenic | 0.8905 | pathogenic | -0.599 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| G/P | 0.9962 | likely_pathogenic | 0.9965 | pathogenic | -0.207 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| G/Q | 0.9606 | likely_pathogenic | 0.9575 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/R | 0.9576 | likely_pathogenic | 0.9608 | pathogenic | -0.709 | Destabilizing | 0.999 | D | 0.843 | deleterious | N | 0.462678829 | None | None | N |
| G/S | 0.633 | likely_pathogenic | 0.6547 | pathogenic | -0.943 | Destabilizing | 0.867 | D | 0.595 | neutral | N | 0.451309297 | None | None | N |
| G/T | 0.8992 | likely_pathogenic | 0.8976 | pathogenic | -0.887 | Destabilizing | 0.998 | D | 0.838 | deleterious | None | None | None | None | N |
| G/V | 0.915 | likely_pathogenic | 0.9302 | pathogenic | -0.207 | Destabilizing | 0.999 | D | 0.835 | deleterious | N | 0.483758825 | None | None | N |
| G/W | 0.9442 | likely_pathogenic | 0.9585 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/Y | 0.9322 | likely_pathogenic | 0.9436 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.814 | 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.