Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28857 | 86794;86795;86796 | chr2:178559563;178559562;178559561 | chr2:179424290;179424289;179424288 |
| N2AB | 27216 | 81871;81872;81873 | chr2:178559563;178559562;178559561 | chr2:179424290;179424289;179424288 |
| N2A | 26289 | 79090;79091;79092 | chr2:178559563;178559562;178559561 | chr2:179424290;179424289;179424288 |
| N2B | 19792 | 59599;59600;59601 | chr2:178559563;178559562;178559561 | chr2:179424290;179424289;179424288 |
| Novex-1 | 19917 | 59974;59975;59976 | chr2:178559563;178559562;178559561 | chr2:179424290;179424289;179424288 |
| Novex-2 | 19984 | 60175;60176;60177 | chr2:178559563;178559562;178559561 | chr2:179424290;179424289;179424288 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs780040559  |
-0.669 | None | N | 0.197 | 0.081 | 0.384919354899 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs780040559 |
-0.669 | None | N | 0.197 | 0.081 | 0.384919354899 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs780040559 |
-0.669 | None | N | 0.197 | 0.081 | 0.384919354899 | gnomAD-4.0.0 | 2.56203E-06 | None | None | None | None | N | None | 0 | 3.38926E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3273 | likely_benign | 0.2937 | benign | -1.361 | Destabilizing | 0.184 | N | 0.445 | neutral | N | 0.518695019 | None | None | N |
| V/C | 0.7199 | likely_pathogenic | 0.6776 | pathogenic | -1.194 | Destabilizing | 0.961 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/D | 0.8185 | likely_pathogenic | 0.7563 | pathogenic | -1.516 | Destabilizing | 0.839 | D | 0.813 | deleterious | None | None | None | None | N |
| V/E | 0.6867 | likely_pathogenic | 0.638 | pathogenic | -1.55 | Destabilizing | 0.389 | N | 0.768 | deleterious | N | 0.49755457 | None | None | N |
| V/F | 0.3189 | likely_benign | 0.254 | benign | -1.347 | Destabilizing | 0.659 | D | 0.741 | deleterious | None | None | None | None | N |
| V/G | 0.4923 | ambiguous | 0.4384 | ambiguous | -1.618 | Destabilizing | 0.842 | D | 0.799 | deleterious | N | 0.510431813 | None | None | N |
| V/H | 0.8203 | likely_pathogenic | 0.7656 | pathogenic | -1.192 | Destabilizing | 0.97 | D | 0.807 | deleterious | None | None | None | None | N |
| V/I | 0.065 | likely_benign | 0.0636 | benign | -0.769 | Destabilizing | None | N | 0.197 | neutral | N | 0.466975333 | None | None | N |
| V/K | 0.5928 | likely_pathogenic | 0.5546 | ambiguous | -0.998 | Destabilizing | 0.648 | D | 0.768 | deleterious | None | None | None | None | N |
| V/L | 0.26 | likely_benign | 0.229 | benign | -0.769 | Destabilizing | 0.002 | N | 0.317 | neutral | N | 0.503456208 | None | None | N |
| V/M | 0.1608 | likely_benign | 0.146 | benign | -0.659 | Destabilizing | 0.581 | D | 0.655 | neutral | None | None | None | None | N |
| V/N | 0.5812 | likely_pathogenic | 0.5095 | ambiguous | -0.85 | Destabilizing | 0.454 | N | 0.811 | deleterious | None | None | None | None | N |
| V/P | 0.7639 | likely_pathogenic | 0.7506 | pathogenic | -0.933 | Destabilizing | 0.454 | N | 0.787 | deleterious | None | None | None | None | N |
| V/Q | 0.6008 | likely_pathogenic | 0.5558 | ambiguous | -1.117 | Destabilizing | 0.799 | D | 0.782 | deleterious | None | None | None | None | N |
| V/R | 0.5795 | likely_pathogenic | 0.5237 | ambiguous | -0.502 | Destabilizing | 0.797 | D | 0.809 | deleterious | None | None | None | None | N |
| V/S | 0.4636 | ambiguous | 0.4044 | ambiguous | -1.317 | Destabilizing | 0.679 | D | 0.767 | deleterious | None | None | None | None | N |
| V/T | 0.2678 | likely_benign | 0.245 | benign | -1.25 | Destabilizing | 0.107 | N | 0.542 | neutral | None | None | None | None | N |
| V/W | 0.9178 | likely_pathogenic | 0.877 | pathogenic | -1.472 | Destabilizing | 0.992 | D | 0.806 | deleterious | None | None | None | None | N |
| V/Y | 0.734 | likely_pathogenic | 0.6489 | pathogenic | -1.142 | Destabilizing | 0.797 | D | 0.762 | 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.