Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31992 | 96199;96200;96201 | chr2:178544255;178544254;178544253 | chr2:179408982;179408981;179408980 |
| N2AB | 30351 | 91276;91277;91278 | chr2:178544255;178544254;178544253 | chr2:179408982;179408981;179408980 |
| N2A | 29424 | 88495;88496;88497 | chr2:178544255;178544254;178544253 | chr2:179408982;179408981;179408980 |
| N2B | 22927 | 69004;69005;69006 | chr2:178544255;178544254;178544253 | chr2:179408982;179408981;179408980 |
| Novex-1 | 23052 | 69379;69380;69381 | chr2:178544255;178544254;178544253 | chr2:179408982;179408981;179408980 |
| Novex-2 | 23119 | 69580;69581;69582 | chr2:178544255;178544254;178544253 | chr2:179408982;179408981;179408980 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1360100058  |
-0.66 | 1.0 | D | 0.861 | 0.593 | 0.498513350342 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/S | rs1360100058 |
-0.66 | 1.0 | D | 0.861 | 0.593 | 0.498513350342 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85863E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7218 | likely_pathogenic | 0.7336 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.540325171 | None | None | I |
| G/C | 0.8891 | likely_pathogenic | 0.8748 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.564305229 | None | None | I |
| G/D | 0.8414 | likely_pathogenic | 0.8208 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.533070242 | None | None | I |
| G/E | 0.8894 | likely_pathogenic | 0.8779 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | I |
| G/F | 0.9831 | likely_pathogenic | 0.9813 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/H | 0.9679 | likely_pathogenic | 0.9668 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/I | 0.9721 | likely_pathogenic | 0.969 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/K | 0.9587 | likely_pathogenic | 0.9588 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/L | 0.9698 | likely_pathogenic | 0.967 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/M | 0.9727 | likely_pathogenic | 0.9721 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/N | 0.8903 | likely_pathogenic | 0.8781 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/P | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | I |
| G/Q | 0.9378 | likely_pathogenic | 0.9365 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | I |
| G/R | 0.9347 | likely_pathogenic | 0.9331 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.551934966 | None | None | I |
| G/S | 0.6057 | likely_pathogenic | 0.5875 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.528297302 | None | None | I |
| G/T | 0.8676 | likely_pathogenic | 0.8681 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | I |
| G/V | 0.9375 | likely_pathogenic | 0.934 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.52931126 | None | None | I |
| G/W | 0.9703 | likely_pathogenic | 0.9643 | pathogenic | -1.432 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/Y | 0.9521 | likely_pathogenic | 0.9463 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
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.