Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24555 | 73888;73889;73890 | chr2:178572469;178572468;178572467 | chr2:179437196;179437195;179437194 |
| N2AB | 22914 | 68965;68966;68967 | chr2:178572469;178572468;178572467 | chr2:179437196;179437195;179437194 |
| N2A | 21987 | 66184;66185;66186 | chr2:178572469;178572468;178572467 | chr2:179437196;179437195;179437194 |
| N2B | 15490 | 46693;46694;46695 | chr2:178572469;178572468;178572467 | chr2:179437196;179437195;179437194 |
| Novex-1 | 15615 | 47068;47069;47070 | chr2:178572469;178572468;178572467 | chr2:179437196;179437195;179437194 |
| Novex-2 | 15682 | 47269;47270;47271 | chr2:178572469;178572468;178572467 | chr2:179437196;179437195;179437194 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs1708576305  |
None | 0.987 | N | 0.408 | 0.147 | 0.468003879618 | gnomAD-4.0.0 | 1.59304E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86153E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8603 | likely_pathogenic | 0.696 | pathogenic | -2.7 | Highly Destabilizing | 1.0 | D | 0.578 | neutral | None | None | None | None | N |
| I/C | 0.8898 | likely_pathogenic | 0.8368 | pathogenic | -2.123 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| I/D | 0.994 | likely_pathogenic | 0.988 | pathogenic | -3.184 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| I/E | 0.9757 | likely_pathogenic | 0.9502 | pathogenic | -3.047 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| I/F | 0.5798 | likely_pathogenic | 0.4661 | ambiguous | -1.737 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.477850018 | None | None | N |
| I/G | 0.9863 | likely_pathogenic | 0.9633 | pathogenic | -3.159 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| I/H | 0.89 | likely_pathogenic | 0.8243 | pathogenic | -2.4 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| I/K | 0.8914 | likely_pathogenic | 0.8196 | pathogenic | -2.113 | Highly Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| I/L | 0.3369 | likely_benign | 0.2427 | benign | -1.401 | Destabilizing | 0.983 | D | 0.392 | neutral | N | 0.504376141 | None | None | N |
| I/M | 0.3385 | likely_benign | 0.2341 | benign | -1.316 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.508071047 | None | None | N |
| I/N | 0.9155 | likely_pathogenic | 0.8443 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | N | 0.479696442 | None | None | N |
| I/P | 0.9971 | likely_pathogenic | 0.9943 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| I/Q | 0.9226 | likely_pathogenic | 0.8609 | pathogenic | -2.346 | Highly Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| I/R | 0.8194 | likely_pathogenic | 0.7062 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| I/S | 0.8628 | likely_pathogenic | 0.7265 | pathogenic | -2.949 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.481556093 | None | None | N |
| I/T | 0.5704 | likely_pathogenic | 0.346 | ambiguous | -2.687 | Highly Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.465542207 | None | None | N |
| I/V | 0.0879 | likely_benign | 0.0707 | benign | -1.814 | Destabilizing | 0.987 | D | 0.408 | neutral | N | 0.463510953 | None | None | N |
| I/W | 0.9554 | likely_pathogenic | 0.941 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| I/Y | 0.8734 | likely_pathogenic | 0.8281 | pathogenic | -1.837 | Destabilizing | 1.0 | D | 0.753 | 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.