Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30797 | 92614;92615;92616 | chr2:178549237;178549236;178549235 | chr2:179413964;179413963;179413962 |
| N2AB | 29156 | 87691;87692;87693 | chr2:178549237;178549236;178549235 | chr2:179413964;179413963;179413962 |
| N2A | 28229 | 84910;84911;84912 | chr2:178549237;178549236;178549235 | chr2:179413964;179413963;179413962 |
| N2B | 21732 | 65419;65420;65421 | chr2:178549237;178549236;178549235 | chr2:179413964;179413963;179413962 |
| Novex-1 | 21857 | 65794;65795;65796 | chr2:178549237;178549236;178549235 | chr2:179413964;179413963;179413962 |
| Novex-2 | 21924 | 65995;65996;65997 | chr2:178549237;178549236;178549235 | chr2:179413964;179413963;179413962 |
| 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/V | rs1428714908  |
-0.436 | 1.0 | D | 0.693 | 0.783 | 0.802490267888 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 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 | 0.9359 | likely_pathogenic | 0.9356 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/D | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -2.797 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.672634136 | None | None | N |
| A/E | 0.9966 | likely_pathogenic | 0.9964 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/F | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/G | 0.5731 | likely_pathogenic | 0.5453 | ambiguous | -2.417 | Highly Destabilizing | 1.0 | D | 0.636 | neutral | D | 0.629462229 | None | None | N |
| A/H | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.235 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/I | 0.9922 | likely_pathogenic | 0.9916 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| A/L | 0.9519 | likely_pathogenic | 0.947 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/M | 0.9821 | likely_pathogenic | 0.9814 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/N | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/P | 0.9721 | likely_pathogenic | 0.9809 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.656009362 | None | None | N |
| A/Q | 0.9945 | likely_pathogenic | 0.9945 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/R | 0.9959 | likely_pathogenic | 0.9954 | pathogenic | -1.659 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/S | 0.6053 | likely_pathogenic | 0.5947 | pathogenic | -2.393 | Highly Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.595657271 | None | None | N |
| A/T | 0.9367 | likely_pathogenic | 0.9263 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.623334867 | None | None | N |
| A/V | 0.9393 | likely_pathogenic | 0.9331 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.64548159 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/Y | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.882 | 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.