Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10150 | 30673;30674;30675 | chr2:178702231;178702230;178702229 | chr2:179566958;179566957;179566956 |
| N2AB | 9833 | 29722;29723;29724 | chr2:178702231;178702230;178702229 | chr2:179566958;179566957;179566956 |
| N2A | 8906 | 26941;26942;26943 | chr2:178702231;178702230;178702229 | chr2:179566958;179566957;179566956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs761922521  |
-1.531 | 1.0 | None | 0.807 | 0.267 | 0.580120749226 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/M | rs761922521 |
-1.531 | 1.0 | None | 0.807 | 0.267 | 0.580120749226 | gnomAD-4.0.0 | 6.84136E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| I/V | None | None | 0.993 | None | 0.36 | 0.277 | 0.715603600314 | gnomAD-4.0.0 | 2.73654E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79878E-06 | 2.31863E-05 | 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 | 0.951 | likely_pathogenic | 0.9583 | pathogenic | -2.484 | Highly Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| I/C | 0.9926 | likely_pathogenic | 0.9944 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/D | 0.9961 | likely_pathogenic | 0.9973 | pathogenic | -2.69 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| I/E | 0.9762 | likely_pathogenic | 0.983 | pathogenic | -2.486 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| I/F | 0.7961 | likely_pathogenic | 0.8131 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| I/G | 0.9966 | likely_pathogenic | 0.9973 | pathogenic | -2.966 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| I/H | 0.9832 | likely_pathogenic | 0.9876 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| I/K | 0.9566 | likely_pathogenic | 0.9701 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| I/L | 0.6308 | likely_pathogenic | 0.6374 | pathogenic | -1.091 | Destabilizing | 0.993 | D | 0.365 | neutral | None | None | None | None | N |
| I/M | 0.537 | ambiguous | 0.5595 | ambiguous | -1.115 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| I/N | 0.968 | likely_pathogenic | 0.9758 | pathogenic | -1.989 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| I/P | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| I/Q | 0.9705 | likely_pathogenic | 0.9786 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| I/R | 0.9414 | likely_pathogenic | 0.9545 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| I/S | 0.957 | likely_pathogenic | 0.9633 | pathogenic | -2.626 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| I/T | 0.7784 | likely_pathogenic | 0.8364 | pathogenic | -2.3 | Highly Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| I/V | 0.3215 | likely_benign | 0.3563 | ambiguous | -1.538 | Destabilizing | 0.993 | D | 0.36 | neutral | None | None | None | None | N |
| I/W | 0.9851 | likely_pathogenic | 0.9892 | pathogenic | -1.765 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| I/Y | 0.9638 | likely_pathogenic | 0.9719 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.798 | 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.