Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30928 | 93007;93008;93009 | chr2:178548844;178548843;178548842 | chr2:179413571;179413570;179413569 |
| N2AB | 29287 | 88084;88085;88086 | chr2:178548844;178548843;178548842 | chr2:179413571;179413570;179413569 |
| N2A | 28360 | 85303;85304;85305 | chr2:178548844;178548843;178548842 | chr2:179413571;179413570;179413569 |
| N2B | 21863 | 65812;65813;65814 | chr2:178548844;178548843;178548842 | chr2:179413571;179413570;179413569 |
| Novex-1 | 21988 | 66187;66188;66189 | chr2:178548844;178548843;178548842 | chr2:179413571;179413570;179413569 |
| Novex-2 | 22055 | 66388;66389;66390 | chr2:178548844;178548843;178548842 | chr2:179413571;179413570;179413569 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs397517756  |
0.773 | 1.0 | N | 0.707 | 0.583 | None | gnomAD-2.1.1 | 1.07216E-04 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.26527E-04 | 0 |
| D/H | rs397517756 |
0.773 | 1.0 | N | 0.707 | 0.583 | None | gnomAD-3.1.2 | 1.51196E-04 | None | None | None | None | N | None | 0 | 5.89545E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.05834E-04 | 0 | 0 |
| D/H | rs397517756 |
0.773 | 1.0 | N | 0.707 | 0.583 | None | gnomAD-4.0.0 | 1.23979E-04 | None | None | None | None | N | None | 0 | 3.16762E-04 | None | 0 | 0 | None | 0 | 0 | 1.43244E-04 | 0 | 1.92135E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4791 | ambiguous | 0.457 | ambiguous | 0.006 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.480284279 | None | None | N |
| D/C | 0.9155 | likely_pathogenic | 0.8948 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/E | 0.6181 | likely_pathogenic | 0.5137 | ambiguous | -0.33 | Destabilizing | 1.0 | D | 0.515 | neutral | N | 0.504211431 | None | None | N |
| D/F | 0.9245 | likely_pathogenic | 0.9003 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/G | 0.5358 | ambiguous | 0.4714 | ambiguous | -0.112 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | N | 0.505225389 | None | None | N |
| D/H | 0.7155 | likely_pathogenic | 0.639 | pathogenic | 0.523 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.518013726 | None | None | N |
| D/I | 0.8735 | likely_pathogenic | 0.8385 | pathogenic | 0.252 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| D/K | 0.8868 | likely_pathogenic | 0.8305 | pathogenic | 0.439 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| D/L | 0.7954 | likely_pathogenic | 0.7659 | pathogenic | 0.252 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/M | 0.9349 | likely_pathogenic | 0.9168 | pathogenic | 0.062 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| D/N | 0.323 | likely_benign | 0.2965 | benign | 0.165 | Stabilizing | 1.0 | D | 0.653 | neutral | N | 0.505478878 | None | None | N |
| D/P | 0.8394 | likely_pathogenic | 0.8191 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/Q | 0.828 | likely_pathogenic | 0.7712 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| D/R | 0.8635 | likely_pathogenic | 0.8132 | pathogenic | 0.67 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/S | 0.3121 | likely_benign | 0.2924 | benign | 0.088 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/T | 0.6546 | likely_pathogenic | 0.5881 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| D/V | 0.7006 | likely_pathogenic | 0.6559 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.785 | deleterious | N | 0.516746278 | None | None | N |
| D/W | 0.9846 | likely_pathogenic | 0.9777 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/Y | 0.6849 | likely_pathogenic | 0.6201 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.765 | deleterious | N | 0.518520705 | 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.