Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15051 | 45376;45377;45378 | chr2:178621673;178621672;178621671 | chr2:179486400;179486399;179486398 |
| N2AB | 13410 | 40453;40454;40455 | chr2:178621673;178621672;178621671 | chr2:179486400;179486399;179486398 |
| N2A | 12483 | 37672;37673;37674 | chr2:178621673;178621672;178621671 | chr2:179486400;179486399;179486398 |
| N2B | 5986 | 18181;18182;18183 | chr2:178621673;178621672;178621671 | chr2:179486400;179486399;179486398 |
| Novex-1 | 6111 | 18556;18557;18558 | chr2:178621673;178621672;178621671 | chr2:179486400;179486399;179486398 |
| Novex-2 | 6178 | 18757;18758;18759 | chr2:178621673;178621672;178621671 | chr2:179486400;179486399;179486398 |
| 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/A | rs751236128  |
-1.713 | 0.174 | N | 0.577 | 0.182 | 0.645517457789 | gnomAD-2.1.1 | 2.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63506E-04 | None | 0 | 0 | 0 |
| V/A | rs751236128 |
-1.713 | 0.174 | N | 0.577 | 0.182 | 0.645517457789 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| V/A | rs751236128 |
-1.713 | 0.174 | N | 0.577 | 0.182 | 0.645517457789 | gnomAD-4.0.0 | 1.61287E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.8557E-04 | 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 | 0.1559 | likely_benign | 0.2141 | benign | -1.826 | Destabilizing | 0.174 | N | 0.577 | neutral | N | 0.490409754 | None | None | N |
| V/C | 0.7468 | likely_pathogenic | 0.8305 | pathogenic | -1.061 | Destabilizing | 0.991 | D | 0.617 | neutral | None | None | None | None | N |
| V/D | 0.3511 | ambiguous | 0.3992 | ambiguous | -2.081 | Highly Destabilizing | 0.782 | D | 0.702 | prob.neutral | N | 0.472415809 | None | None | N |
| V/E | 0.2308 | likely_benign | 0.2948 | benign | -1.955 | Destabilizing | 0.826 | D | 0.649 | neutral | None | None | None | None | N |
| V/F | 0.1684 | likely_benign | 0.1887 | benign | -1.174 | Destabilizing | 0.782 | D | 0.622 | neutral | N | 0.510265871 | None | None | N |
| V/G | 0.2162 | likely_benign | 0.2756 | benign | -2.268 | Highly Destabilizing | 0.782 | D | 0.674 | neutral | N | 0.506996888 | None | None | N |
| V/H | 0.5406 | ambiguous | 0.634 | pathogenic | -1.923 | Destabilizing | 0.991 | D | 0.73 | prob.delet. | None | None | None | None | N |
| V/I | 0.0766 | likely_benign | 0.0815 | benign | -0.642 | Destabilizing | 0.001 | N | 0.255 | neutral | N | 0.468042463 | None | None | N |
| V/K | 0.4309 | ambiguous | 0.5275 | ambiguous | -1.605 | Destabilizing | 0.826 | D | 0.65 | neutral | None | None | None | None | N |
| V/L | 0.1671 | likely_benign | 0.2029 | benign | -0.642 | Destabilizing | 0.031 | N | 0.425 | neutral | N | 0.491075283 | None | None | N |
| V/M | 0.1577 | likely_benign | 0.1923 | benign | -0.42 | Destabilizing | 0.826 | D | 0.593 | neutral | None | None | None | None | N |
| V/N | 0.2406 | likely_benign | 0.3033 | benign | -1.626 | Destabilizing | 0.826 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/P | 0.7114 | likely_pathogenic | 0.7928 | pathogenic | -1.006 | Destabilizing | 0.906 | D | 0.661 | neutral | None | None | None | None | N |
| V/Q | 0.3009 | likely_benign | 0.3896 | ambiguous | -1.625 | Destabilizing | 0.906 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/R | 0.3719 | ambiguous | 0.4422 | ambiguous | -1.221 | Destabilizing | 0.906 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/S | 0.1538 | likely_benign | 0.2147 | benign | -2.186 | Highly Destabilizing | 0.404 | N | 0.623 | neutral | None | None | None | None | N |
| V/T | 0.1449 | likely_benign | 0.2002 | benign | -1.941 | Destabilizing | 0.018 | N | 0.409 | neutral | None | None | None | None | N |
| V/W | 0.8108 | likely_pathogenic | 0.8546 | pathogenic | -1.61 | Destabilizing | 0.991 | D | 0.745 | deleterious | None | None | None | None | N |
| V/Y | 0.5266 | ambiguous | 0.5969 | pathogenic | -1.241 | Destabilizing | 0.906 | D | 0.622 | neutral | 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.