Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20969 | 63130;63131;63132 | chr2:178588820;178588819;178588818 | chr2:179453547;179453546;179453545 |
| N2AB | 19328 | 58207;58208;58209 | chr2:178588820;178588819;178588818 | chr2:179453547;179453546;179453545 |
| N2A | 18401 | 55426;55427;55428 | chr2:178588820;178588819;178588818 | chr2:179453547;179453546;179453545 |
| N2B | 11904 | 35935;35936;35937 | chr2:178588820;178588819;178588818 | chr2:179453547;179453546;179453545 |
| Novex-1 | 12029 | 36310;36311;36312 | chr2:178588820;178588819;178588818 | chr2:179453547;179453546;179453545 |
| Novex-2 | 12096 | 36511;36512;36513 | chr2:178588820;178588819;178588818 | chr2:179453547;179453546;179453545 |
| 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/A | rs1176453673  |
None | 0.004 | N | 0.316 | 0.067 | 0.136095386433 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs1176453673 |
None | 0.004 | N | 0.316 | 0.067 | 0.136095386433 | gnomAD-4.0.0 | 3.71922E-06 | None | None | None | None | N | None | 4.00577E-05 | 0 | None | 0 | 2.23364E-05 | None | 0 | 0 | 8.47752E-07 | 0 | 1.60154E-05 |
| P/L | rs1479518856 |
-0.799 | 0.709 | N | 0.741 | 0.496 | 0.691700772289 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66279E-04 |
| P/L | rs1479518856 |
-0.799 | 0.709 | N | 0.741 | 0.496 | 0.691700772289 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02554E-05 |
| P/S | rs1176453673 |
-1.427 | 0.41 | N | 0.594 | 0.165 | 0.1749357433 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| P/S | rs1176453673 |
-1.427 | 0.41 | N | 0.594 | 0.165 | 0.1749357433 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 2.23754E-05 | None | 0 | 0 | None | 0 | 0 | 8.99588E-07 | 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 | 0.0623 | likely_benign | 0.0689 | benign | -1.169 | Destabilizing | 0.004 | N | 0.316 | neutral | N | 0.456526266 | None | None | N |
| P/C | 0.3175 | likely_benign | 0.3534 | ambiguous | -0.728 | Destabilizing | 0.98 | D | 0.847 | deleterious | None | None | None | None | N |
| P/D | 0.6231 | likely_pathogenic | 0.6105 | pathogenic | -1.17 | Destabilizing | 0.866 | D | 0.758 | deleterious | None | None | None | None | N |
| P/E | 0.3248 | likely_benign | 0.3203 | benign | -1.266 | Destabilizing | 0.866 | D | 0.694 | prob.neutral | None | None | None | None | N |
| P/F | 0.3561 | ambiguous | 0.381 | ambiguous | -1.257 | Destabilizing | 0.98 | D | 0.856 | deleterious | None | None | None | None | N |
| P/G | 0.3604 | ambiguous | 0.3955 | ambiguous | -1.373 | Destabilizing | 0.48 | N | 0.596 | neutral | None | None | None | None | N |
| P/H | 0.2365 | likely_benign | 0.2515 | benign | -0.891 | Destabilizing | 0.991 | D | 0.826 | deleterious | N | 0.50698141 | None | None | N |
| P/I | 0.1643 | likely_benign | 0.1621 | benign | -0.747 | Destabilizing | 0.866 | D | 0.844 | deleterious | None | None | None | None | N |
| P/K | 0.3179 | likely_benign | 0.3243 | benign | -0.907 | Destabilizing | 0.866 | D | 0.702 | prob.neutral | None | None | None | None | N |
| P/L | 0.1095 | likely_benign | 0.1155 | benign | -0.747 | Destabilizing | 0.709 | D | 0.741 | deleterious | N | 0.517995321 | None | None | N |
| P/M | 0.2085 | likely_benign | 0.2145 | benign | -0.421 | Destabilizing | 0.98 | D | 0.831 | deleterious | None | None | None | None | N |
| P/N | 0.3686 | ambiguous | 0.3512 | ambiguous | -0.583 | Destabilizing | 0.929 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Q | 0.1602 | likely_benign | 0.173 | benign | -0.91 | Destabilizing | 0.929 | D | 0.822 | deleterious | None | None | None | None | N |
| P/R | 0.2175 | likely_benign | 0.2397 | benign | -0.251 | Destabilizing | 0.83 | D | 0.828 | deleterious | N | 0.521249748 | None | None | N |
| P/S | 0.1228 | likely_benign | 0.1299 | benign | -0.972 | Destabilizing | 0.41 | N | 0.594 | neutral | N | 0.517921441 | None | None | N |
| P/T | 0.0968 | likely_benign | 0.1021 | benign | -0.975 | Destabilizing | 0.709 | D | 0.706 | prob.neutral | N | 0.5180948 | None | None | N |
| P/V | 0.1246 | likely_benign | 0.1261 | benign | -0.853 | Destabilizing | 0.764 | D | 0.703 | prob.neutral | None | None | None | None | N |
| P/W | 0.6481 | likely_pathogenic | 0.6928 | pathogenic | -1.322 | Destabilizing | 0.993 | D | 0.817 | deleterious | None | None | None | None | N |
| P/Y | 0.3817 | ambiguous | 0.4046 | ambiguous | -1.052 | Destabilizing | 0.98 | D | 0.855 | 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.