Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9356 | 28291;28292;28293 | chr2:178711170;178711169;178711168 | chr2:179575897;179575896;179575895 |
| N2AB | 9039 | 27340;27341;27342 | chr2:178711170;178711169;178711168 | chr2:179575897;179575896;179575895 |
| N2A | 8112 | 24559;24560;24561 | chr2:178711170;178711169;178711168 | chr2:179575897;179575896;179575895 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 1.0 | None | 0.838 | 0.359 | 0.215109475489 | gnomAD-4.0.0 | 3.42091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49731E-06 | 0 | 0 |
| A/T | rs2076600862  |
None | 0.996 | None | 0.653 | 0.293 | 0.176091768786 | gnomAD-4.0.0 | 2.05255E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 1.79892E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7784 | likely_pathogenic | 0.797 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/D | 0.9896 | likely_pathogenic | 0.9895 | pathogenic | -2.104 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/E | 0.9794 | likely_pathogenic | 0.9812 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/F | 0.8674 | likely_pathogenic | 0.8792 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/G | 0.3703 | ambiguous | 0.3491 | ambiguous | -1.4 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| A/H | 0.9823 | likely_pathogenic | 0.9825 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/I | 0.7819 | likely_pathogenic | 0.7669 | pathogenic | 0.34 | Stabilizing | 0.994 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/K | 0.9913 | likely_pathogenic | 0.9929 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/L | 0.6624 | likely_pathogenic | 0.6826 | pathogenic | 0.34 | Stabilizing | 0.994 | D | 0.683 | prob.neutral | None | None | None | None | N |
| A/M | 0.7669 | likely_pathogenic | 0.7552 | pathogenic | -0.036 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/N | 0.9711 | likely_pathogenic | 0.9694 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/P | 0.9769 | likely_pathogenic | 0.982 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/Q | 0.9626 | likely_pathogenic | 0.9665 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/R | 0.9766 | likely_pathogenic | 0.9803 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/S | 0.3527 | ambiguous | 0.3184 | benign | -1.688 | Destabilizing | 0.998 | D | 0.628 | neutral | None | None | None | None | N |
| A/T | 0.4917 | ambiguous | 0.445 | ambiguous | -1.365 | Destabilizing | 0.996 | D | 0.653 | neutral | None | None | None | None | N |
| A/V | 0.4376 | ambiguous | 0.4219 | ambiguous | -0.038 | Destabilizing | 0.884 | D | 0.472 | neutral | None | None | None | None | N |
| A/W | 0.9922 | likely_pathogenic | 0.9934 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/Y | 0.9519 | likely_pathogenic | 0.9587 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.847 | deleterious | 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.