Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31861 | 95806;95807;95808 | chr2:178545529;178545528;178545527 | chr2:179410256;179410255;179410254 |
| N2AB | 30220 | 90883;90884;90885 | chr2:178545529;178545528;178545527 | chr2:179410256;179410255;179410254 |
| N2A | 29293 | 88102;88103;88104 | chr2:178545529;178545528;178545527 | chr2:179410256;179410255;179410254 |
| N2B | 22796 | 68611;68612;68613 | chr2:178545529;178545528;178545527 | chr2:179410256;179410255;179410254 |
| Novex-1 | 22921 | 68986;68987;68988 | chr2:178545529;178545528;178545527 | chr2:179410256;179410255;179410254 |
| Novex-2 | 22988 | 69187;69188;69189 | chr2:178545529;178545528;178545527 | chr2:179410256;179410255;179410254 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs59148238  |
-0.006 | 0.915 | N | 0.487 | 0.208 | None | gnomAD-2.1.1 | 2.8891E-04 | None | None | None | None | N | None | 3.14102E-03 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 2.80269E-04 |
| Y/C | rs59148238 |
-0.006 | 0.915 | N | 0.487 | 0.208 | None | gnomAD-3.1.2 | 8.28152E-04 | None | None | None | None | N | None | 2.89519E-03 | 1.31044E-04 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 1.47E-05 | 0 | 9.5511E-04 |
| Y/C | rs59148238 |
-0.006 | 0.915 | N | 0.487 | 0.208 | None | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 4.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| Y/C | rs59148238 |
-0.006 | 0.915 | N | 0.487 | 0.208 | None | gnomAD-4.0.0 | 1.87768E-04 | None | None | None | None | N | None | 3.57209E-03 | 6.66644E-05 | None | 0 | 0 | None | 0 | 3.30251E-04 | 7.62921E-06 | 0 | 3.20133E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.2041 | likely_benign | 0.2171 | benign | -1.174 | Destabilizing | 0.081 | N | 0.465 | neutral | None | None | None | None | N |
| Y/C | 0.0883 | likely_benign | 0.0867 | benign | -0.23 | Destabilizing | 0.915 | D | 0.487 | neutral | N | 0.430091813 | None | None | N |
| Y/D | 0.2084 | likely_benign | 0.2235 | benign | 0.345 | Stabilizing | 0.317 | N | 0.489 | neutral | N | 0.479056409 | None | None | N |
| Y/E | 0.4376 | ambiguous | 0.4652 | ambiguous | 0.36 | Stabilizing | 0.235 | N | 0.479 | neutral | None | None | None | None | N |
| Y/F | 0.0781 | likely_benign | 0.0813 | benign | -0.519 | Destabilizing | None | N | 0.179 | neutral | N | 0.485849095 | None | None | N |
| Y/G | 0.2022 | likely_benign | 0.2278 | benign | -1.41 | Destabilizing | 0.081 | N | 0.47 | neutral | None | None | None | None | N |
| Y/H | 0.1246 | likely_benign | 0.1448 | benign | -0.146 | Destabilizing | 0.001 | N | 0.307 | neutral | N | 0.504261498 | None | None | N |
| Y/I | 0.2377 | likely_benign | 0.2782 | benign | -0.529 | Destabilizing | 0.38 | N | 0.474 | neutral | None | None | None | None | N |
| Y/K | 0.4024 | ambiguous | 0.4321 | ambiguous | -0.32 | Destabilizing | 0.235 | N | 0.486 | neutral | None | None | None | None | N |
| Y/L | 0.2779 | likely_benign | 0.3223 | benign | -0.529 | Destabilizing | 0.081 | N | 0.471 | neutral | None | None | None | None | N |
| Y/M | 0.3504 | ambiguous | 0.3705 | ambiguous | -0.38 | Destabilizing | 0.935 | D | 0.463 | neutral | None | None | None | None | N |
| Y/N | 0.1043 | likely_benign | 0.1199 | benign | -0.599 | Destabilizing | 0.188 | N | 0.487 | neutral | N | 0.483942154 | None | None | N |
| Y/P | 0.6287 | likely_pathogenic | 0.7318 | pathogenic | -0.729 | Destabilizing | 0.555 | D | 0.497 | neutral | None | None | None | None | N |
| Y/Q | 0.2957 | likely_benign | 0.3292 | benign | -0.521 | Destabilizing | 0.38 | N | 0.482 | neutral | None | None | None | None | N |
| Y/R | 0.2774 | likely_benign | 0.3064 | benign | -0.009 | Destabilizing | 0.38 | N | 0.511 | neutral | None | None | None | None | N |
| Y/S | 0.1026 | likely_benign | 0.0992 | benign | -1.018 | Destabilizing | 0.004 | N | 0.351 | neutral | N | 0.483768795 | None | None | N |
| Y/T | 0.1517 | likely_benign | 0.158 | benign | -0.909 | Destabilizing | 0.081 | N | 0.483 | neutral | None | None | None | None | N |
| Y/V | 0.1768 | likely_benign | 0.1928 | benign | -0.729 | Destabilizing | 0.149 | N | 0.487 | neutral | None | None | None | None | N |
| Y/W | 0.361 | ambiguous | 0.3648 | ambiguous | -0.491 | Destabilizing | 0.935 | D | 0.511 | 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.