Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21636 | 65131;65132;65133 | chr2:178584735;178584734;178584733 | chr2:179449462;179449461;179449460 |
| N2AB | 19995 | 60208;60209;60210 | chr2:178584735;178584734;178584733 | chr2:179449462;179449461;179449460 |
| N2A | 19068 | 57427;57428;57429 | chr2:178584735;178584734;178584733 | chr2:179449462;179449461;179449460 |
| N2B | 12571 | 37936;37937;37938 | chr2:178584735;178584734;178584733 | chr2:179449462;179449461;179449460 |
| Novex-1 | 12696 | 38311;38312;38313 | chr2:178584735;178584734;178584733 | chr2:179449462;179449461;179449460 |
| Novex-2 | 12763 | 38512;38513;38514 | chr2:178584735;178584734;178584733 | chr2:179449462;179449461;179449460 |
| 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/G | None | None | 1.0 | D | 0.654 | 0.569 | 0.559310644637 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85972E-06 | 0 | 0 |
| A/T | rs765859586  |
-2.007 | 1.0 | D | 0.83 | 0.583 | 0.538792235971 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/T | rs765859586 |
-2.007 | 1.0 | D | 0.83 | 0.583 | 0.538792235971 | gnomAD-4.0.0 | 1.59193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-05 |
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 | 0.9053 | likely_pathogenic | 0.9058 | pathogenic | -1.908 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| A/D | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -2.766 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.577662998 | None | None | N |
| A/E | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -2.542 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/F | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.949 | deleterious | None | None | None | None | N |
| A/G | 0.5782 | likely_pathogenic | 0.5495 | ambiguous | -2.434 | Highly Destabilizing | 1.0 | D | 0.654 | neutral | D | 0.535578684 | None | None | N |
| A/H | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -2.073 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| A/I | 0.9923 | likely_pathogenic | 0.9931 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/L | 0.9709 | likely_pathogenic | 0.976 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/M | 0.9837 | likely_pathogenic | 0.9867 | pathogenic | -1.471 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/N | 0.9971 | likely_pathogenic | 0.9972 | pathogenic | -1.971 | Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| A/P | 0.9915 | likely_pathogenic | 0.9897 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.566306692 | None | None | N |
| A/Q | 0.9952 | likely_pathogenic | 0.9962 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/R | 0.9977 | likely_pathogenic | 0.9983 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/S | 0.3991 | ambiguous | 0.387 | ambiguous | -2.301 | Highly Destabilizing | 1.0 | D | 0.641 | neutral | N | 0.515940265 | None | None | N |
| A/T | 0.8982 | likely_pathogenic | 0.9066 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.550894554 | None | None | N |
| A/V | 0.9419 | likely_pathogenic | 0.9493 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.532095964 | None | None | N |
| A/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| A/Y | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.953 | 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.