Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21552 | 64879;64880;64881 | chr2:178585090;178585089;178585088 | chr2:179449817;179449816;179449815 |
| N2AB | 19911 | 59956;59957;59958 | chr2:178585090;178585089;178585088 | chr2:179449817;179449816;179449815 |
| N2A | 18984 | 57175;57176;57177 | chr2:178585090;178585089;178585088 | chr2:179449817;179449816;179449815 |
| N2B | 12487 | 37684;37685;37686 | chr2:178585090;178585089;178585088 | chr2:179449817;179449816;179449815 |
| Novex-1 | 12612 | 38059;38060;38061 | chr2:178585090;178585089;178585088 | chr2:179449817;179449816;179449815 |
| Novex-2 | 12679 | 38260;38261;38262 | chr2:178585090;178585089;178585088 | chr2:179449817;179449816;179449815 |
| 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/T | None | None | None | N | 0.473 | 0.371 | 0.658271391856 | gnomAD-4.0.0 | 1.6134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46852E-05 | 0 |
| I/V | rs201247592  |
-1.562 | None | N | 0.136 | 0.059 | None | gnomAD-2.1.1 | 1.42112E-04 | None | None | None | None | N | None | 1.49651E-03 | 8.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs201247592 |
-1.562 | None | N | 0.136 | 0.059 | None | gnomAD-3.1.2 | 3.35275E-04 | None | None | None | None | N | None | 1.20616E-03 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs201247592 |
-1.562 | None | N | 0.136 | 0.059 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/V | rs201247592 |
-1.562 | None | N | 0.136 | 0.059 | None | gnomAD-4.0.0 | 5.10788E-05 | None | None | None | None | N | None | 9.66936E-04 | 6.81826E-05 | None | 0 | 0 | None | 0 | 0 | 8.50567E-07 | 0 | 8.05438E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7694 | likely_pathogenic | 0.8041 | pathogenic | -2.82 | Highly Destabilizing | 0.035 | N | 0.646 | neutral | None | None | None | None | N |
| I/C | 0.7799 | likely_pathogenic | 0.7918 | pathogenic | -2.001 | Highly Destabilizing | 0.824 | D | 0.703 | prob.neutral | None | None | None | None | N |
| I/D | 0.9955 | likely_pathogenic | 0.9969 | pathogenic | -3.603 | Highly Destabilizing | 0.38 | N | 0.793 | deleterious | None | None | None | None | N |
| I/E | 0.9856 | likely_pathogenic | 0.9887 | pathogenic | -3.308 | Highly Destabilizing | 0.38 | N | 0.787 | deleterious | None | None | None | None | N |
| I/F | 0.3833 | ambiguous | 0.3637 | ambiguous | -1.693 | Destabilizing | 0.317 | N | 0.716 | prob.delet. | N | 0.473723239 | None | None | N |
| I/G | 0.9497 | likely_pathogenic | 0.9599 | pathogenic | -3.406 | Highly Destabilizing | 0.38 | N | 0.789 | deleterious | None | None | None | None | N |
| I/H | 0.979 | likely_pathogenic | 0.9819 | pathogenic | -3.05 | Highly Destabilizing | 0.935 | D | 0.749 | deleterious | None | None | None | None | N |
| I/K | 0.9776 | likely_pathogenic | 0.9802 | pathogenic | -2.381 | Highly Destabilizing | 0.38 | N | 0.787 | deleterious | None | None | None | None | N |
| I/L | 0.1261 | likely_benign | 0.1258 | benign | -1.073 | Destabilizing | None | N | 0.156 | neutral | N | 0.442936185 | None | None | N |
| I/M | 0.1241 | likely_benign | 0.1205 | benign | -1.077 | Destabilizing | 0.317 | N | 0.699 | prob.neutral | N | 0.502306235 | None | None | N |
| I/N | 0.9336 | likely_pathogenic | 0.945 | pathogenic | -2.989 | Highly Destabilizing | 0.317 | N | 0.794 | deleterious | N | 0.502813214 | None | None | N |
| I/P | 0.9907 | likely_pathogenic | 0.9947 | pathogenic | -1.644 | Destabilizing | 0.555 | D | 0.795 | deleterious | None | None | None | None | N |
| I/Q | 0.9635 | likely_pathogenic | 0.9687 | pathogenic | -2.71 | Highly Destabilizing | 0.555 | D | 0.781 | deleterious | None | None | None | None | N |
| I/R | 0.965 | likely_pathogenic | 0.9702 | pathogenic | -2.225 | Highly Destabilizing | 0.38 | N | 0.791 | deleterious | None | None | None | None | N |
| I/S | 0.8938 | likely_pathogenic | 0.9135 | pathogenic | -3.561 | Highly Destabilizing | 0.062 | N | 0.754 | deleterious | N | 0.510433401 | None | None | N |
| I/T | 0.7936 | likely_pathogenic | 0.8285 | pathogenic | -3.117 | Highly Destabilizing | None | N | 0.473 | neutral | N | 0.478571698 | None | None | N |
| I/V | 0.0975 | likely_benign | 0.1127 | benign | -1.644 | Destabilizing | None | N | 0.136 | neutral | N | 0.408631611 | None | None | N |
| I/W | 0.9556 | likely_pathogenic | 0.9587 | pathogenic | -2.2 | Highly Destabilizing | 0.935 | D | 0.765 | deleterious | None | None | None | None | N |
| I/Y | 0.8796 | likely_pathogenic | 0.8724 | pathogenic | -1.932 | Destabilizing | 0.555 | D | 0.765 | 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.