Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20924 | 62995;62996;62997 | chr2:178588955;178588954;178588953 | chr2:179453682;179453681;179453680 |
| N2AB | 19283 | 58072;58073;58074 | chr2:178588955;178588954;178588953 | chr2:179453682;179453681;179453680 |
| N2A | 18356 | 55291;55292;55293 | chr2:178588955;178588954;178588953 | chr2:179453682;179453681;179453680 |
| N2B | 11859 | 35800;35801;35802 | chr2:178588955;178588954;178588953 | chr2:179453682;179453681;179453680 |
| Novex-1 | 11984 | 36175;36176;36177 | chr2:178588955;178588954;178588953 | chr2:179453682;179453681;179453680 |
| Novex-2 | 12051 | 36376;36377;36378 | chr2:178588955;178588954;178588953 | chr2:179453682;179453681;179453680 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1213561769  |
-0.136 | 0.166 | N | 0.375 | 0.194 | 0.291694819147 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 0 |
| T/I | rs1213561769 |
-0.136 | 0.166 | N | 0.375 | 0.194 | 0.291694819147 | gnomAD-4.0.0 | 2.73884E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79946E-06 | 2.31981E-05 | 0 |
| T/R | rs1213561769 |
-0.258 | 0.166 | N | 0.397 | 0.231 | 0.326881540566 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/R | rs1213561769 |
-0.258 | 0.166 | N | 0.397 | 0.231 | 0.326881540566 | gnomAD-4.0.0 | 4.79298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.2981E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.068 | likely_benign | 0.0702 | benign | -0.867 | Destabilizing | None | N | 0.077 | neutral | N | 0.508288812 | None | None | N |
| T/C | 0.2409 | likely_benign | 0.2782 | benign | -0.451 | Destabilizing | 0.901 | D | 0.441 | neutral | None | None | None | None | N |
| T/D | 0.4252 | ambiguous | 0.4648 | ambiguous | 0.003 | Stabilizing | 0.209 | N | 0.367 | neutral | None | None | None | None | N |
| T/E | 0.3455 | ambiguous | 0.3645 | ambiguous | -0.015 | Destabilizing | 0.209 | N | 0.313 | neutral | None | None | None | None | N |
| T/F | 0.1887 | likely_benign | 0.2281 | benign | -1.089 | Destabilizing | 0.901 | D | 0.585 | neutral | None | None | None | None | N |
| T/G | 0.2078 | likely_benign | 0.2308 | benign | -1.095 | Destabilizing | 0.209 | N | 0.313 | neutral | None | None | None | None | N |
| T/H | 0.1852 | likely_benign | 0.187 | benign | -1.346 | Destabilizing | 0.004 | N | 0.331 | neutral | None | None | None | None | N |
| T/I | 0.0993 | likely_benign | 0.1132 | benign | -0.359 | Destabilizing | 0.166 | N | 0.375 | neutral | N | 0.520601961 | None | None | N |
| T/K | 0.1796 | likely_benign | 0.1728 | benign | -0.662 | Destabilizing | 0.001 | N | 0.172 | neutral | N | 0.438908871 | None | None | N |
| T/L | 0.0858 | likely_benign | 0.0932 | benign | -0.359 | Destabilizing | 0.103 | N | 0.275 | neutral | None | None | None | None | N |
| T/M | 0.0782 | likely_benign | 0.0858 | benign | -0.027 | Destabilizing | 0.901 | D | 0.441 | neutral | None | None | None | None | N |
| T/N | 0.1086 | likely_benign | 0.1189 | benign | -0.559 | Destabilizing | 0.002 | N | 0.153 | neutral | None | None | None | None | N |
| T/P | 0.1082 | likely_benign | 0.1253 | benign | -0.497 | Destabilizing | 0.662 | D | 0.421 | neutral | N | 0.475312389 | None | None | N |
| T/Q | 0.1852 | likely_benign | 0.1882 | benign | -0.725 | Destabilizing | 0.017 | N | 0.229 | neutral | None | None | None | None | N |
| T/R | 0.1587 | likely_benign | 0.1586 | benign | -0.408 | Destabilizing | 0.166 | N | 0.397 | neutral | N | 0.489703051 | None | None | N |
| T/S | 0.0954 | likely_benign | 0.1 | benign | -0.865 | Destabilizing | 0.08 | N | 0.215 | neutral | N | 0.503362995 | None | None | N |
| T/V | 0.0752 | likely_benign | 0.0805 | benign | -0.497 | Destabilizing | 0.007 | N | 0.093 | neutral | None | None | None | None | N |
| T/W | 0.5171 | ambiguous | 0.5727 | pathogenic | -1.014 | Destabilizing | 0.991 | D | 0.527 | neutral | None | None | None | None | N |
| T/Y | 0.205 | likely_benign | 0.2393 | benign | -0.782 | Destabilizing | 0.561 | D | 0.562 | 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.