Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6202 | 18829;18830;18831 | chr2:178729552;178729551;178729550 | chr2:179594279;179594278;179594277 |
| N2AB | 5885 | 17878;17879;17880 | chr2:178729552;178729551;178729550 | chr2:179594279;179594278;179594277 |
| N2A | 4958 | 15097;15098;15099 | chr2:178729552;178729551;178729550 | chr2:179594279;179594278;179594277 |
| 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 | rs1041345186  |
None | 0.019 | N | 0.179 | 0.069 | 0.304108284078 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | rs1041345186 |
None | 0.019 | N | 0.179 | 0.069 | 0.304108284078 | gnomAD-4.0.0 | 6.57324E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 0 | 0 |
| I/N | None | None | 0.427 | N | 0.375 | 0.163 | 0.687687559846 | gnomAD-4.0.0 | 6.84698E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99981E-07 | 0 | 0 |
| I/T | rs1298665270 |
-0.128 | 0.096 | N | 0.27 | 0.116 | 0.405150804464 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| I/T | rs1298665270 |
-0.128 | 0.096 | N | 0.27 | 0.116 | 0.405150804464 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| I/T | rs1298665270 |
-0.128 | 0.096 | N | 0.27 | 0.116 | 0.405150804464 | gnomAD-4.0.0 | 6.20091E-06 | None | None | None | None | I | None | 0 | 1.67001E-05 | None | 0 | 0 | None | 0 | 0 | 5.0884E-06 | 0 | 4.80769E-05 |
| I/V | None | None | None | N | 0.115 | 0.066 | 0.262175524916 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.1816 | likely_benign | 0.2168 | benign | -0.942 | Destabilizing | 0.055 | N | 0.269 | neutral | None | None | None | None | I |
| I/C | 0.4828 | ambiguous | 0.5888 | pathogenic | -0.731 | Destabilizing | 0.883 | D | 0.231 | neutral | None | None | None | None | I |
| I/D | 0.4338 | ambiguous | 0.5008 | ambiguous | -0.137 | Destabilizing | 0.001 | N | 0.227 | neutral | None | None | None | None | I |
| I/E | 0.2684 | likely_benign | 0.3091 | benign | -0.197 | Destabilizing | 0.124 | N | 0.318 | neutral | None | None | None | None | I |
| I/F | 0.1091 | likely_benign | 0.1245 | benign | -0.691 | Destabilizing | 0.427 | N | 0.216 | neutral | N | 0.458454046 | None | None | I |
| I/G | 0.3344 | likely_benign | 0.4185 | ambiguous | -1.16 | Destabilizing | 0.22 | N | 0.338 | neutral | None | None | None | None | I |
| I/H | 0.2035 | likely_benign | 0.2482 | benign | -0.26 | Destabilizing | 0.958 | D | 0.27 | neutral | None | None | None | None | I |
| I/K | 0.1351 | likely_benign | 0.1514 | benign | -0.495 | Destabilizing | 0.001 | N | 0.229 | neutral | None | None | None | None | I |
| I/L | 0.0755 | likely_benign | 0.0878 | benign | -0.473 | Destabilizing | 0.019 | N | 0.155 | neutral | N | 0.451666659 | None | None | I |
| I/M | 0.0899 | likely_benign | 0.1022 | benign | -0.451 | Destabilizing | 0.019 | N | 0.179 | neutral | N | 0.504002421 | None | None | I |
| I/N | 0.1429 | likely_benign | 0.1764 | benign | -0.335 | Destabilizing | 0.427 | N | 0.375 | neutral | N | 0.456238773 | None | None | I |
| I/P | 0.6322 | likely_pathogenic | 0.7005 | pathogenic | -0.595 | Destabilizing | 0.667 | D | 0.365 | neutral | None | None | None | None | I |
| I/Q | 0.1575 | likely_benign | 0.1872 | benign | -0.55 | Destabilizing | 0.497 | N | 0.357 | neutral | None | None | None | None | I |
| I/R | 0.0991 | likely_benign | 0.1104 | benign | 0.103 | Stabilizing | 0.331 | N | 0.373 | neutral | None | None | None | None | I |
| I/S | 0.1317 | likely_benign | 0.159 | benign | -0.904 | Destabilizing | 0.175 | N | 0.323 | neutral | N | 0.497999168 | None | None | I |
| I/T | 0.1078 | likely_benign | 0.1199 | benign | -0.853 | Destabilizing | 0.096 | N | 0.27 | neutral | N | 0.426328284 | None | None | I |
| I/V | 0.07 | likely_benign | 0.0748 | benign | -0.595 | Destabilizing | None | N | 0.115 | neutral | N | 0.430195309 | None | None | I |
| I/W | 0.5234 | ambiguous | 0.5972 | pathogenic | -0.675 | Destabilizing | 0.958 | D | 0.28 | neutral | None | None | None | None | I |
| I/Y | 0.3152 | likely_benign | 0.3689 | ambiguous | -0.45 | Destabilizing | 0.667 | D | 0.271 | 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.