Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13829 | 41710;41711;41712 | chr2:178636086;178636085;178636084 | chr2:179500813;179500812;179500811 |
| N2AB | 12188 | 36787;36788;36789 | chr2:178636086;178636085;178636084 | chr2:179500813;179500812;179500811 |
| N2A | 11261 | 34006;34007;34008 | chr2:178636086;178636085;178636084 | chr2:179500813;179500812;179500811 |
| N2B | 4764 | 14515;14516;14517 | chr2:178636086;178636085;178636084 | chr2:179500813;179500812;179500811 |
| Novex-1 | 4889 | 14890;14891;14892 | chr2:178636086;178636085;178636084 | chr2:179500813;179500812;179500811 |
| Novex-2 | 4956 | 15091;15092;15093 | chr2:178636086;178636085;178636084 | chr2:179500813;179500812;179500811 |
| 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 | rs1114167326  |
-0.344 | 0.174 | N | 0.464 | 0.069 | 0.101711395817 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/A | rs1114167326 |
-0.344 | 0.174 | N | 0.464 | 0.069 | 0.101711395817 | gnomAD-4.0.0 | 6.84402E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9964E-07 | 0 | 0 |
| G/D | rs1114167326 |
None | 0.338 | N | 0.654 | 0.156 | 0.132336055621 | gnomAD-4.0.0 | 6.84402E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9964E-07 | 0 | 0 |
| G/R | None | None | 0.782 | N | 0.677 | 0.097 | 0.130388298395 | gnomAD-4.0.0 | 6.84399E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65689E-05 |
| G/S | rs1157546543 |
None | 0.003 | N | 0.358 | 0.052 | 0.0666544352282 | gnomAD-4.0.0 | 2.0532E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73551E-04 | 8.99632E-07 | 0 | 1.65689E-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 | 0.1691 | likely_benign | 0.1635 | benign | -0.468 | Destabilizing | 0.174 | N | 0.464 | neutral | N | 0.34741309 | None | None | N |
| G/C | 0.4409 | ambiguous | 0.4113 | ambiguous | -0.749 | Destabilizing | 0.965 | D | 0.785 | deleterious | N | 0.341653215 | None | None | N |
| G/D | 0.7154 | likely_pathogenic | 0.7169 | pathogenic | -1.039 | Destabilizing | 0.338 | N | 0.654 | prob.neutral | N | 0.347161598 | None | None | N |
| G/E | 0.6278 | likely_pathogenic | 0.6278 | pathogenic | -1.1 | Destabilizing | 0.404 | N | 0.677 | prob.neutral | None | None | None | None | N |
| G/F | 0.8817 | likely_pathogenic | 0.8869 | pathogenic | -0.841 | Destabilizing | 0.906 | D | 0.795 | deleterious | None | None | None | None | N |
| G/H | 0.7768 | likely_pathogenic | 0.7512 | pathogenic | -1.078 | Destabilizing | 0.973 | D | 0.745 | deleterious | None | None | None | None | N |
| G/I | 0.5936 | likely_pathogenic | 0.5794 | pathogenic | -0.174 | Destabilizing | 0.826 | D | 0.786 | deleterious | None | None | None | None | N |
| G/K | 0.8344 | likely_pathogenic | 0.8348 | pathogenic | -1.213 | Destabilizing | 0.404 | N | 0.676 | prob.neutral | None | None | None | None | N |
| G/L | 0.7289 | likely_pathogenic | 0.7196 | pathogenic | -0.174 | Destabilizing | 0.575 | D | 0.702 | prob.delet. | None | None | None | None | N |
| G/M | 0.7127 | likely_pathogenic | 0.6834 | pathogenic | -0.264 | Destabilizing | 0.991 | D | 0.776 | deleterious | None | None | None | None | N |
| G/N | 0.6205 | likely_pathogenic | 0.5726 | pathogenic | -0.887 | Destabilizing | 0.004 | N | 0.207 | neutral | None | None | None | None | N |
| G/P | 0.9884 | likely_pathogenic | 0.9901 | pathogenic | -0.232 | Destabilizing | 0.906 | D | 0.691 | prob.delet. | None | None | None | None | N |
| G/Q | 0.6856 | likely_pathogenic | 0.6439 | pathogenic | -1.045 | Destabilizing | 0.826 | D | 0.757 | deleterious | None | None | None | None | N |
| G/R | 0.6768 | likely_pathogenic | 0.681 | pathogenic | -0.878 | Destabilizing | 0.782 | D | 0.677 | prob.neutral | N | 0.339696395 | None | None | N |
| G/S | 0.1497 | likely_benign | 0.1287 | benign | -1.06 | Destabilizing | 0.003 | N | 0.358 | neutral | N | 0.326195797 | None | None | N |
| G/T | 0.2896 | likely_benign | 0.2474 | benign | -1.042 | Destabilizing | 0.018 | N | 0.512 | neutral | None | None | None | None | N |
| G/V | 0.3914 | ambiguous | 0.376 | ambiguous | -0.232 | Destabilizing | 0.782 | D | 0.692 | prob.delet. | N | 0.344598796 | None | None | N |
| G/W | 0.8297 | likely_pathogenic | 0.8259 | pathogenic | -1.229 | Destabilizing | 0.991 | D | 0.753 | deleterious | None | None | None | None | N |
| G/Y | 0.8102 | likely_pathogenic | 0.8134 | pathogenic | -0.791 | Destabilizing | 0.906 | D | 0.791 | 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.