Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34287 | 103084;103085;103086 | chr2:178533756;178533755;178533754 | chr2:179398483;179398482;179398481 |
| N2AB | 32646 | 98161;98162;98163 | chr2:178533756;178533755;178533754 | chr2:179398483;179398482;179398481 |
| N2A | 31719 | 95380;95381;95382 | chr2:178533756;178533755;178533754 | chr2:179398483;179398482;179398481 |
| N2B | 25222 | 75889;75890;75891 | chr2:178533756;178533755;178533754 | chr2:179398483;179398482;179398481 |
| Novex-1 | 25347 | 76264;76265;76266 | chr2:178533756;178533755;178533754 | chr2:179398483;179398482;179398481 |
| Novex-2 | 25414 | 76465;76466;76467 | chr2:178533756;178533755;178533754 | chr2:179398483;179398482;179398481 |
| 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/T | None | None | 1.0 | D | 0.837 | 0.776 | 0.587327121794 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7999 | likely_pathogenic | 0.7566 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.511027011 | None | None | N |
| P/C | 0.9831 | likely_pathogenic | 0.9816 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| P/D | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -2.807 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/E | 0.9958 | likely_pathogenic | 0.9942 | pathogenic | -2.662 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.9981 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/G | 0.9829 | likely_pathogenic | 0.9819 | pathogenic | -2.519 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/H | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -2.425 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.574102415 | None | None | N |
| P/I | 0.9804 | likely_pathogenic | 0.9683 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/K | 0.9974 | likely_pathogenic | 0.9965 | pathogenic | -1.885 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/L | 0.9593 | likely_pathogenic | 0.9425 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.531013689 | None | None | N |
| P/M | 0.9933 | likely_pathogenic | 0.9895 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| P/N | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/Q | 0.9941 | likely_pathogenic | 0.992 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/R | 0.9932 | likely_pathogenic | 0.9912 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.573595436 | None | None | N |
| P/S | 0.9762 | likely_pathogenic | 0.972 | pathogenic | -2.441 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.550211262 | None | None | N |
| P/T | 0.96 | likely_pathogenic | 0.9383 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.543627897 | None | None | N |
| P/V | 0.9496 | likely_pathogenic | 0.9237 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.803 | 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.