Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27101 | 81526;81527;81528 | chr2:178564831;178564830;178564829 | chr2:179429558;179429557;179429556 |
| N2AB | 25460 | 76603;76604;76605 | chr2:178564831;178564830;178564829 | chr2:179429558;179429557;179429556 |
| N2A | 24533 | 73822;73823;73824 | chr2:178564831;178564830;178564829 | chr2:179429558;179429557;179429556 |
| N2B | 18036 | 54331;54332;54333 | chr2:178564831;178564830;178564829 | chr2:179429558;179429557;179429556 |
| Novex-1 | 18161 | 54706;54707;54708 | chr2:178564831;178564830;178564829 | chr2:179429558;179429557;179429556 |
| Novex-2 | 18228 | 54907;54908;54909 | chr2:178564831;178564830;178564829 | chr2:179429558;179429557;179429556 |
| 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/A | rs201490050  |
0.161 | 1.0 | N | 0.621 | 0.478 | 0.421184727016 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs201490050 |
0.161 | 1.0 | N | 0.621 | 0.478 | 0.421184727016 | gnomAD-4.0.0 | 6.84524E-07 | None | None | None | None | I | None | 0 | 2.23964E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | None | None | 1.0 | D | 0.697 | 0.537 | 0.499727662827 | 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 |
| G/D | None | None | 1.0 | D | 0.697 | 0.537 | 0.499727662827 | gnomAD-4.0.0 | 1.23995E-06 | None | None | None | None | I | None | 1.33576E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60195E-05 |
| G/S | rs1441990001 |
-0.088 | 1.0 | N | 0.708 | 0.509 | 0.432041664125 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1441990001 |
-0.088 | 1.0 | N | 0.708 | 0.509 | 0.432041664125 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs1441990001 |
-0.088 | 1.0 | N | 0.708 | 0.509 | 0.432041664125 | gnomAD-4.0.0 | 6.41139E-06 | None | None | None | None | I | None | 5.0782E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39442E-06 | 0 | 2.84689E-05 |
| G/V | rs201490050 |
-0.001 | 1.0 | D | 0.8 | 0.631 | None | gnomAD-2.1.1 | 9.71E-05 | None | None | None | None | I | None | 1.11912E-03 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs201490050 |
-0.001 | 1.0 | D | 0.8 | 0.631 | None | gnomAD-3.1.2 | 3.09019E-04 | None | None | None | None | I | None | 1.06208E-03 | 1.31079E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| G/V | rs201490050 |
-0.001 | 1.0 | D | 0.8 | 0.631 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/V | rs201490050 |
-0.001 | 1.0 | D | 0.8 | 0.631 | None | gnomAD-4.0.0 | 6.44729E-05 | None | None | None | None | I | None | 1.32025E-03 | 3.33734E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.80415E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7328 | likely_pathogenic | 0.7924 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.507414208 | None | None | I |
| G/C | 0.8035 | likely_pathogenic | 0.8498 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.546789497 | None | None | I |
| G/D | 0.8103 | likely_pathogenic | 0.8745 | pathogenic | -0.511 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.523062928 | None | None | I |
| G/E | 0.8793 | likely_pathogenic | 0.9189 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/F | 0.9721 | likely_pathogenic | 0.98 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/H | 0.9204 | likely_pathogenic | 0.9466 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/I | 0.9619 | likely_pathogenic | 0.9726 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/K | 0.9189 | likely_pathogenic | 0.9435 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/L | 0.9526 | likely_pathogenic | 0.9664 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.9603 | likely_pathogenic | 0.973 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/N | 0.7631 | likely_pathogenic | 0.848 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/P | 0.9934 | likely_pathogenic | 0.995 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/Q | 0.8697 | likely_pathogenic | 0.9135 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/R | 0.8641 | likely_pathogenic | 0.895 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.515505284 | None | None | I |
| G/S | 0.48 | ambiguous | 0.5848 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.515807999 | None | None | I |
| G/T | 0.8761 | likely_pathogenic | 0.9162 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/V | 0.9409 | likely_pathogenic | 0.9585 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.546789497 | None | None | I |
| G/W | 0.9628 | likely_pathogenic | 0.9723 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/Y | 0.9399 | likely_pathogenic | 0.9581 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.776 | 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.