Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14193 | 42802;42803;42804 | chr2:178633922;178633921;178633920 | chr2:179498649;179498648;179498647 |
| N2AB | 12552 | 37879;37880;37881 | chr2:178633922;178633921;178633920 | chr2:179498649;179498648;179498647 |
| N2A | 11625 | 35098;35099;35100 | chr2:178633922;178633921;178633920 | chr2:179498649;179498648;179498647 |
| N2B | 5128 | 15607;15608;15609 | chr2:178633922;178633921;178633920 | chr2:179498649;179498648;179498647 |
| Novex-1 | 5253 | 15982;15983;15984 | chr2:178633922;178633921;178633920 | chr2:179498649;179498648;179498647 |
| Novex-2 | 5320 | 16183;16184;16185 | chr2:178633922;178633921;178633920 | chr2:179498649;179498648;179498647 |
| 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/D | None | None | 1.0 | N | 0.672 | 0.517 | 0.280181792013 | gnomAD-4.0.0 | 1.59201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85979E-06 | 0 | 0 |
| G/S | rs766100670  |
-0.703 | 1.0 | D | 0.703 | 0.481 | 0.26169431596 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 1.44852E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs766100670 |
-0.703 | 1.0 | D | 0.703 | 0.481 | 0.26169431596 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 3.93649E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs766100670 |
-0.703 | 1.0 | D | 0.703 | 0.481 | 0.26169431596 | gnomAD-4.0.0 | 1.53826E-05 | None | None | None | None | N | None | 0 | 2.03493E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4289 | ambiguous | 0.4175 | ambiguous | -0.456 | Destabilizing | 1.0 | D | 0.585 | neutral | D | 0.599871507 | None | None | N |
| G/C | 0.653 | likely_pathogenic | 0.6425 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.666327898 | None | None | N |
| G/D | 0.2689 | likely_benign | 0.309 | benign | -1.166 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.506796605 | None | None | N |
| G/E | 0.3951 | ambiguous | 0.4013 | ambiguous | -1.332 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/F | 0.8976 | likely_pathogenic | 0.8938 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/H | 0.7473 | likely_pathogenic | 0.7565 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/I | 0.8434 | likely_pathogenic | 0.8159 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| G/K | 0.7016 | likely_pathogenic | 0.6909 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/L | 0.8303 | likely_pathogenic | 0.8314 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/M | 0.8537 | likely_pathogenic | 0.8496 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| G/N | 0.397 | ambiguous | 0.4189 | ambiguous | -0.592 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/P | 0.9593 | likely_pathogenic | 0.962 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/Q | 0.6447 | likely_pathogenic | 0.6477 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/R | 0.6478 | likely_pathogenic | 0.6142 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | D | 0.583867458 | None | None | N |
| G/S | 0.2816 | likely_benign | 0.2623 | benign | -0.658 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.578824472 | None | None | N |
| G/T | 0.6132 | likely_pathogenic | 0.5943 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/V | 0.7145 | likely_pathogenic | 0.6798 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.626040889 | None | None | N |
| G/W | 0.7667 | likely_pathogenic | 0.7462 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/Y | 0.7548 | likely_pathogenic | 0.7566 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.68 | prob.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.