Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35980 | 108163;108164;108165 | chr2:178527050;178527049;178527048 | chr2:179391777;179391776;179391775 |
| N2AB | 34339 | 103240;103241;103242 | chr2:178527050;178527049;178527048 | chr2:179391777;179391776;179391775 |
| N2A | 33412 | 100459;100460;100461 | chr2:178527050;178527049;178527048 | chr2:179391777;179391776;179391775 |
| N2B | 26915 | 80968;80969;80970 | chr2:178527050;178527049;178527048 | chr2:179391777;179391776;179391775 |
| Novex-1 | 27040 | 81343;81344;81345 | chr2:178527050;178527049;178527048 | chr2:179391777;179391776;179391775 |
| Novex-2 | 27107 | 81544;81545;81546 | chr2:178527050;178527049;178527048 | chr2:179391777;179391776;179391775 |
| 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 | None | None | 1.0 | N | 0.751 | 0.425 | 0.465633601861 | gnomAD-4.0.0 | 1.59156E-06 | None | None | None | -1.341(OBSL1) 0.548(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85827E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4908 | ambiguous | 0.4712 | ambiguous | -0.514 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.47920363 | None | -2.277(OBSL1) -0.625(OBSCN) | N |
| D/C | 0.9418 | likely_pathogenic | 0.9412 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | -1.692(OBSL1) -0.923(OBSCN) | N |
| D/E | 0.6165 | likely_pathogenic | 0.589 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.534 | neutral | N | 0.484616373 | None | -1.523(OBSL1) -0.899(OBSCN) | N |
| D/F | 0.9613 | likely_pathogenic | 0.956 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | -1.949(OBSL1) -0.636(OBSCN) | N |
| D/G | 0.595 | likely_pathogenic | 0.5528 | ambiguous | -0.794 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.492253376 | None | -2.309(OBSL1) -0.773(OBSCN) | N |
| D/H | 0.7893 | likely_pathogenic | 0.768 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.509205542 | None | -1.341(OBSL1) 0.548(OBSCN) | N |
| D/I | 0.926 | likely_pathogenic | 0.9181 | pathogenic | 0.202 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | -2.168(OBSL1) -0.218(OBSCN) | N |
| D/K | 0.8717 | likely_pathogenic | 0.8331 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | -1.836(OBSL1) -0.28(OBSCN) | N |
| D/L | 0.9198 | likely_pathogenic | 0.9085 | pathogenic | 0.202 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | -2.168(OBSL1) -0.218(OBSCN) | N |
| D/M | 0.9754 | likely_pathogenic | 0.9738 | pathogenic | 0.503 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | -1.751(OBSL1) 0.32(OBSCN) | N |
| D/N | 0.319 | likely_benign | 0.2987 | benign | -0.233 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | N | 0.487947736 | None | -1.664(OBSL1) -1.39(OBSCN) | N |
| D/P | 0.9871 | likely_pathogenic | 0.9859 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | -2.206(OBSL1) -0.344(OBSCN) | N |
| D/Q | 0.8333 | likely_pathogenic | 0.8032 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | -1.775(OBSL1) -1.07(OBSCN) | N |
| D/R | 0.8587 | likely_pathogenic | 0.8212 | pathogenic | 0.416 | Stabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | -1.505(OBSL1) -0.122(OBSCN) | N |
| D/S | 0.3358 | likely_benign | 0.3176 | benign | -0.368 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | -1.994(OBSL1) -1.364(OBSCN) | N |
| D/T | 0.7454 | likely_pathogenic | 0.7237 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -1.982(OBSL1) -1.227(OBSCN) | N |
| D/V | 0.7842 | likely_pathogenic | 0.7674 | pathogenic | -0.013 | Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.487092394 | None | -2.206(OBSL1) -0.344(OBSCN) | N |
| D/W | 0.9943 | likely_pathogenic | 0.9943 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -1.636(OBSL1) -0.732(OBSCN) | N |
| D/Y | 0.7594 | likely_pathogenic | 0.7455 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.535957078 | None | -1.78(OBSL1) -0.529(OBSCN) | 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.