Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14993 | 45202;45203;45204 | chr2:178621945;178621944;178621943 | chr2:179486672;179486671;179486670 |
| N2AB | 13352 | 40279;40280;40281 | chr2:178621945;178621944;178621943 | chr2:179486672;179486671;179486670 |
| N2A | 12425 | 37498;37499;37500 | chr2:178621945;178621944;178621943 | chr2:179486672;179486671;179486670 |
| N2B | 5928 | 18007;18008;18009 | chr2:178621945;178621944;178621943 | chr2:179486672;179486671;179486670 |
| Novex-1 | 6053 | 18382;18383;18384 | chr2:178621945;178621944;178621943 | chr2:179486672;179486671;179486670 |
| Novex-2 | 6120 | 18583;18584;18585 | chr2:178621945;178621944;178621943 | chr2:179486672;179486671;179486670 |
| 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/E | rs200931793  |
-1.329 | 1.0 | D | 0.667 | 0.498 | None | gnomAD-2.1.1 | 4.45E-05 | None | None | None | None | N | None | 6.49E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-05 | 0 |
| G/E | rs200931793 |
-1.329 | 1.0 | D | 0.667 | 0.498 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.03041E-04 | 0 | 0 |
| G/E | rs200931793 |
-1.329 | 1.0 | D | 0.667 | 0.498 | None | gnomAD-4.0.0 | 9.307E-05 | None | None | None | None | N | None | 2.67423E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20455E-04 | 1.09907E-05 | 8.02028E-05 |
| G/V | rs200931793 |
None | 1.0 | D | 0.686 | 0.617 | 0.557207555769 | gnomAD-4.0.0 | 2.0551E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70044E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3897 | ambiguous | 0.3812 | ambiguous | -0.394 | Destabilizing | 1.0 | D | 0.589 | neutral | D | 0.588877774 | None | None | N |
| G/C | 0.7473 | likely_pathogenic | 0.7184 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/D | 0.2954 | likely_benign | 0.298 | benign | -0.498 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| G/E | 0.4219 | ambiguous | 0.4345 | ambiguous | -0.65 | Destabilizing | 1.0 | D | 0.667 | neutral | D | 0.630479241 | None | None | N |
| G/F | 0.9358 | likely_pathogenic | 0.9187 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/H | 0.8109 | likely_pathogenic | 0.8106 | pathogenic | -0.573 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| G/I | 0.8515 | likely_pathogenic | 0.8362 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| G/K | 0.738 | likely_pathogenic | 0.7438 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/L | 0.887 | likely_pathogenic | 0.8779 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/M | 0.8957 | likely_pathogenic | 0.889 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/N | 0.4718 | ambiguous | 0.4931 | ambiguous | -0.554 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| G/P | 0.9503 | likely_pathogenic | 0.9493 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| G/Q | 0.7255 | likely_pathogenic | 0.7364 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/R | 0.7139 | likely_pathogenic | 0.692 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.658 | neutral | D | 0.559458387 | None | None | N |
| G/S | 0.2901 | likely_benign | 0.2819 | benign | -0.754 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/T | 0.6001 | likely_pathogenic | 0.5965 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/V | 0.6938 | likely_pathogenic | 0.6715 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.712655048 | None | None | N |
| G/W | 0.8611 | likely_pathogenic | 0.8346 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/Y | 0.8261 | likely_pathogenic | 0.7999 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.661 | 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.