Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9389 | 28390;28391;28392 | chr2:178711071;178711070;178711069 | chr2:179575798;179575797;179575796 |
| N2AB | 9072 | 27439;27440;27441 | chr2:178711071;178711070;178711069 | chr2:179575798;179575797;179575796 |
| N2A | 8145 | 24658;24659;24660 | chr2:178711071;178711070;178711069 | chr2:179575798;179575797;179575796 |
| 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/L | rs1577825049  |
None | 0.047 | None | 0.151 | 0.076 | 0.338110398507 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | rs1577825049 |
None | 0.047 | None | 0.151 | 0.076 | 0.338110398507 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | N | None | 2.41161E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1577825049 |
None | 0.001 | None | 0.118 | 0.047 | 0.250039746154 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1577825049 |
None | 0.001 | None | 0.118 | 0.047 | 0.250039746154 | gnomAD-4.0.0 | 4.42798E-06 | None | None | None | None | N | None | 1.36418E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.14991E-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 | 0.31 | likely_benign | 0.3137 | benign | -1.564 | Destabilizing | 0.129 | N | 0.29 | neutral | None | None | None | None | N |
| I/C | 0.7056 | likely_pathogenic | 0.6854 | pathogenic | -0.885 | Destabilizing | 0.983 | D | 0.334 | neutral | None | None | None | None | N |
| I/D | 0.5609 | ambiguous | 0.5984 | pathogenic | -1.168 | Destabilizing | 0.264 | N | 0.342 | neutral | None | None | None | None | N |
| I/E | 0.4452 | ambiguous | 0.4466 | ambiguous | -1.176 | Destabilizing | 0.418 | N | 0.347 | neutral | None | None | None | None | N |
| I/F | 0.1281 | likely_benign | 0.1324 | benign | -1.081 | Destabilizing | 0.655 | D | 0.347 | neutral | None | None | None | None | N |
| I/G | 0.6036 | likely_pathogenic | 0.6109 | pathogenic | -1.873 | Destabilizing | 0.418 | N | 0.316 | neutral | None | None | None | None | N |
| I/H | 0.2881 | likely_benign | 0.2901 | benign | -1.038 | Destabilizing | 0.836 | D | 0.325 | neutral | None | None | None | None | N |
| I/K | 0.2576 | likely_benign | 0.2827 | benign | -1.17 | Destabilizing | 0.418 | N | 0.342 | neutral | None | None | None | None | N |
| I/L | 0.1011 | likely_benign | 0.0883 | benign | -0.797 | Destabilizing | 0.047 | N | 0.151 | neutral | None | None | None | None | N |
| I/M | 0.1159 | likely_benign | 0.1084 | benign | -0.588 | Destabilizing | 0.655 | D | 0.397 | neutral | None | None | None | None | N |
| I/N | 0.1702 | likely_benign | 0.1857 | benign | -0.971 | Destabilizing | 0.007 | N | 0.293 | neutral | None | None | None | None | N |
| I/P | 0.8681 | likely_pathogenic | 0.9014 | pathogenic | -1.022 | Destabilizing | 0.94 | D | 0.359 | neutral | None | None | None | None | N |
| I/Q | 0.2695 | likely_benign | 0.2678 | benign | -1.169 | Destabilizing | 0.836 | D | 0.359 | neutral | None | None | None | None | N |
| I/R | 0.1965 | likely_benign | 0.2152 | benign | -0.502 | Destabilizing | 0.836 | D | 0.358 | neutral | None | None | None | None | N |
| I/S | 0.1994 | likely_benign | 0.2114 | benign | -1.524 | Destabilizing | 0.101 | N | 0.276 | neutral | None | None | None | None | N |
| I/T | 0.1608 | likely_benign | 0.1575 | benign | -1.423 | Destabilizing | 0.003 | N | 0.138 | neutral | None | None | None | None | N |
| I/V | 0.0958 | likely_benign | 0.0902 | benign | -1.022 | Destabilizing | 0.001 | N | 0.118 | neutral | None | None | None | None | N |
| I/W | 0.6822 | likely_pathogenic | 0.701 | pathogenic | -1.156 | Destabilizing | 0.983 | D | 0.37 | neutral | None | None | None | None | N |
| I/Y | 0.353 | ambiguous | 0.3662 | ambiguous | -0.95 | Destabilizing | 0.836 | D | 0.35 | neutral | 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.