Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30789 | 92590;92591;92592 | chr2:178549261;178549260;178549259 | chr2:179413988;179413987;179413986 |
| N2AB | 29148 | 87667;87668;87669 | chr2:178549261;178549260;178549259 | chr2:179413988;179413987;179413986 |
| N2A | 28221 | 84886;84887;84888 | chr2:178549261;178549260;178549259 | chr2:179413988;179413987;179413986 |
| N2B | 21724 | 65395;65396;65397 | chr2:178549261;178549260;178549259 | chr2:179413988;179413987;179413986 |
| Novex-1 | 21849 | 65770;65771;65772 | chr2:178549261;178549260;178549259 | chr2:179413988;179413987;179413986 |
| Novex-2 | 21916 | 65971;65972;65973 | chr2:178549261;178549260;178549259 | chr2:179413988;179413987;179413986 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs767252340  |
-0.953 | 0.928 | N | 0.409 | 0.188 | 0.215869574891 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| N/S | rs767252340 |
-0.953 | 0.928 | N | 0.409 | 0.188 | 0.215869574891 | gnomAD-4.0.0 | 2.73669E-06 | None | None | None | None | N | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 1.15931E-05 | 0 |
| N/T | rs767252340 |
-0.582 | 0.963 | N | 0.538 | 0.296 | 0.241078983079 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| N/T | rs767252340 |
-0.582 | 0.963 | N | 0.538 | 0.296 | 0.241078983079 | gnomAD-4.0.0 | 8.21008E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07931E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2308 | likely_benign | 0.2641 | benign | -0.893 | Destabilizing | 0.944 | D | 0.595 | neutral | None | None | None | None | N |
| N/C | 0.1453 | likely_benign | 0.1561 | benign | 0.037 | Stabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/D | 0.3071 | likely_benign | 0.3369 | benign | -0.875 | Destabilizing | 0.928 | D | 0.479 | neutral | N | 0.502453344 | None | None | N |
| N/E | 0.5546 | ambiguous | 0.6016 | pathogenic | -0.783 | Destabilizing | 0.944 | D | 0.525 | neutral | None | None | None | None | N |
| N/F | 0.4879 | ambiguous | 0.512 | ambiguous | -0.614 | Destabilizing | 0.992 | D | 0.74 | deleterious | None | None | None | None | N |
| N/G | 0.3066 | likely_benign | 0.338 | benign | -1.236 | Destabilizing | 0.944 | D | 0.395 | neutral | None | None | None | None | N |
| N/H | 0.1153 | likely_benign | 0.1178 | benign | -1.013 | Destabilizing | 0.085 | N | 0.269 | neutral | N | 0.408716463 | None | None | N |
| N/I | 0.2098 | likely_benign | 0.2273 | benign | -0.017 | Destabilizing | 0.989 | D | 0.741 | deleterious | N | 0.458009133 | None | None | N |
| N/K | 0.5064 | ambiguous | 0.5274 | ambiguous | -0.418 | Destabilizing | 0.928 | D | 0.544 | neutral | N | 0.473495874 | None | None | N |
| N/L | 0.2269 | likely_benign | 0.2409 | benign | -0.017 | Destabilizing | 0.983 | D | 0.732 | prob.delet. | None | None | None | None | N |
| N/M | 0.2708 | likely_benign | 0.2935 | benign | 0.547 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| N/P | 0.9384 | likely_pathogenic | 0.9381 | pathogenic | -0.279 | Destabilizing | 0.997 | D | 0.692 | prob.neutral | None | None | None | None | N |
| N/Q | 0.3753 | ambiguous | 0.3992 | ambiguous | -1.009 | Destabilizing | 0.983 | D | 0.624 | neutral | None | None | None | None | N |
| N/R | 0.4769 | ambiguous | 0.5045 | ambiguous | -0.416 | Destabilizing | 0.983 | D | 0.627 | neutral | None | None | None | None | N |
| N/S | 0.0768 | likely_benign | 0.0817 | benign | -0.98 | Destabilizing | 0.928 | D | 0.409 | neutral | N | 0.429705024 | None | None | N |
| N/T | 0.1315 | likely_benign | 0.1534 | benign | -0.706 | Destabilizing | 0.963 | D | 0.538 | neutral | N | 0.430987529 | None | None | N |
| N/V | 0.192 | likely_benign | 0.2093 | benign | -0.279 | Destabilizing | 0.992 | D | 0.722 | prob.delet. | None | None | None | None | N |
| N/W | 0.7497 | likely_pathogenic | 0.767 | pathogenic | -0.398 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| N/Y | 0.1702 | likely_benign | 0.1634 | benign | -0.202 | Destabilizing | 0.957 | D | 0.687 | prob.neutral | N | 0.486510525 | 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.