Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30560 | 91903;91904;91905 | chr2:178550160;178550159;178550158 | chr2:179414887;179414886;179414885 |
| N2AB | 28919 | 86980;86981;86982 | chr2:178550160;178550159;178550158 | chr2:179414887;179414886;179414885 |
| N2A | 27992 | 84199;84200;84201 | chr2:178550160;178550159;178550158 | chr2:179414887;179414886;179414885 |
| N2B | 21495 | 64708;64709;64710 | chr2:178550160;178550159;178550158 | chr2:179414887;179414886;179414885 |
| Novex-1 | 21620 | 65083;65084;65085 | chr2:178550160;178550159;178550158 | chr2:179414887;179414886;179414885 |
| Novex-2 | 21687 | 65284;65285;65286 | chr2:178550160;178550159;178550158 | chr2:179414887;179414886;179414885 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.763 | 0.867 | 0.908265275133 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9918 | likely_pathogenic | 0.9924 | pathogenic | -3.172 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/C | 0.9905 | likely_pathogenic | 0.991 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.713977191 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.401 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.272 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/F | 0.495 | ambiguous | 0.4731 | ambiguous | -1.942 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| W/G | 0.9872 | likely_pathogenic | 0.989 | pathogenic | -3.426 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.713775386 | None | None | N |
| W/H | 0.9945 | likely_pathogenic | 0.9943 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| W/I | 0.9359 | likely_pathogenic | 0.939 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/L | 0.8978 | likely_pathogenic | 0.8946 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.697756025 | None | None | N |
| W/M | 0.9797 | likely_pathogenic | 0.9792 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| W/N | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -3.452 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/P | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -2.558 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.234 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/R | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.713977191 | None | None | N |
| W/S | 0.9921 | likely_pathogenic | 0.9929 | pathogenic | -3.607 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.713977191 | None | None | N |
| W/T | 0.9937 | likely_pathogenic | 0.9942 | pathogenic | -3.406 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| W/V | 0.9417 | likely_pathogenic | 0.9405 | pathogenic | -2.558 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/Y | 0.8426 | likely_pathogenic | 0.8203 | pathogenic | -1.791 | Destabilizing | 1.0 | D | 0.832 | 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.