Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29252 | 87979;87980;87981 | chr2:178557508;178557507;178557506 | chr2:179422235;179422234;179422233 |
| N2AB | 27611 | 83056;83057;83058 | chr2:178557508;178557507;178557506 | chr2:179422235;179422234;179422233 |
| N2A | 26684 | 80275;80276;80277 | chr2:178557508;178557507;178557506 | chr2:179422235;179422234;179422233 |
| N2B | 20187 | 60784;60785;60786 | chr2:178557508;178557507;178557506 | chr2:179422235;179422234;179422233 |
| Novex-1 | 20312 | 61159;61160;61161 | chr2:178557508;178557507;178557506 | chr2:179422235;179422234;179422233 |
| Novex-2 | 20379 | 61360;61361;61362 | chr2:178557508;178557507;178557506 | chr2:179422235;179422234;179422233 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1164269030  |
0.386 | 0.999 | N | 0.547 | 0.371 | 0.306053231325 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs1164269030 |
0.386 | 0.999 | N | 0.547 | 0.371 | 0.306053231325 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs1164269030 |
0.386 | 0.999 | N | 0.547 | 0.371 | 0.306053231325 | gnomAD-4.0.0 | 1.85895E-06 | None | None | None | None | I | None | 2.66894E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47544E-07 | 0 | 0 |
| E/Q | rs1164269030 |
None | 1.0 | N | 0.606 | 0.294 | 0.216624796971 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 1.30907E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs1164269030 |
None | 1.0 | N | 0.606 | 0.294 | 0.216624796971 | gnomAD-4.0.0 | 3.09825E-06 | None | None | None | None | I | None | 0 | 6.66644E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60108E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3697 | ambiguous | 0.4049 | ambiguous | -0.425 | Destabilizing | 0.999 | D | 0.637 | neutral | N | 0.486465171 | None | None | I |
| E/C | 0.9403 | likely_pathogenic | 0.9466 | pathogenic | 0.052 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | I |
| E/D | 0.119 | likely_benign | 0.1296 | benign | -0.355 | Destabilizing | 0.999 | D | 0.462 | neutral | N | 0.352841751 | None | None | I |
| E/F | 0.9224 | likely_pathogenic | 0.934 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| E/G | 0.3363 | likely_benign | 0.3691 | ambiguous | -0.614 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.47291987 | None | None | I |
| E/H | 0.7262 | likely_pathogenic | 0.7575 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | I |
| E/I | 0.8083 | likely_pathogenic | 0.8231 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| E/K | 0.5086 | ambiguous | 0.5261 | ambiguous | 0.356 | Stabilizing | 0.999 | D | 0.547 | neutral | N | 0.468975488 | None | None | I |
| E/L | 0.7582 | likely_pathogenic | 0.7871 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| E/M | 0.7916 | likely_pathogenic | 0.8084 | pathogenic | 0.217 | Stabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | I |
| E/N | 0.3397 | likely_benign | 0.3505 | ambiguous | 0.082 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| E/P | 0.964 | likely_pathogenic | 0.973 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| E/Q | 0.3118 | likely_benign | 0.3291 | benign | 0.097 | Stabilizing | 1.0 | D | 0.606 | neutral | N | 0.477845688 | None | None | I |
| E/R | 0.656 | likely_pathogenic | 0.6806 | pathogenic | 0.496 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| E/S | 0.3527 | ambiguous | 0.3816 | ambiguous | -0.081 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | I |
| E/T | 0.4478 | ambiguous | 0.4687 | ambiguous | 0.072 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| E/V | 0.6158 | likely_pathogenic | 0.6447 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.513035697 | None | None | I |
| E/W | 0.9679 | likely_pathogenic | 0.9742 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| E/Y | 0.8158 | likely_pathogenic | 0.8402 | pathogenic | -0.148 | Destabilizing | 1.0 | D | 0.657 | neutral | 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.