Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8221 | 24886;24887;24888 | chr2:178718445;178718444;178718443 | chr2:179583172;179583171;179583170 |
| N2AB | 7904 | 23935;23936;23937 | chr2:178718445;178718444;178718443 | chr2:179583172;179583171;179583170 |
| N2A | 6977 | 21154;21155;21156 | chr2:178718445;178718444;178718443 | chr2:179583172;179583171;179583170 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs773426185  |
0.415 | 0.001 | N | 0.255 | 0.087 | 0.403469152278 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/I | rs773426185 |
0.415 | 0.001 | N | 0.255 | 0.087 | 0.403469152278 | gnomAD-4.0.0 | 1.59135E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/K | rs1290574317 |
None | 0.014 | N | 0.467 | 0.158 | 0.427368086475 | gnomAD-4.0.0 | 6.84222E-07 | None | None | None | None | N | None | 0 | 2.23644E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | None | None | None | N | 0.29 | 0.163 | 0.389439708392 | gnomAD-4.0.0 | 6.84222E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99488E-07 | 0 | 0 |
| M/V | None | None | None | N | 0.215 | 0.12 | 0.466991082792 | gnomAD-4.0.0 | 2.05266E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69845E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1338 | likely_benign | 0.1169 | benign | -0.86 | Destabilizing | 0.002 | N | 0.325 | neutral | None | None | None | None | N |
| M/C | 0.5994 | likely_pathogenic | 0.577 | pathogenic | -0.757 | Destabilizing | 0.245 | N | 0.487 | neutral | None | None | None | None | N |
| M/D | 0.5031 | ambiguous | 0.4558 | ambiguous | 0.213 | Stabilizing | 0.018 | N | 0.565 | neutral | None | None | None | None | N |
| M/E | 0.1903 | likely_benign | 0.1778 | benign | 0.194 | Stabilizing | 0.018 | N | 0.532 | neutral | None | None | None | None | N |
| M/F | 0.2876 | likely_benign | 0.2755 | benign | -0.255 | Destabilizing | None | N | 0.207 | neutral | None | None | None | None | N |
| M/G | 0.3096 | likely_benign | 0.2763 | benign | -1.103 | Destabilizing | None | N | 0.377 | neutral | None | None | None | None | N |
| M/H | 0.3092 | likely_benign | 0.2777 | benign | -0.25 | Destabilizing | 0.497 | N | 0.541 | neutral | None | None | None | None | N |
| M/I | 0.1931 | likely_benign | 0.1764 | benign | -0.294 | Destabilizing | 0.001 | N | 0.255 | neutral | N | 0.442264182 | None | None | N |
| M/K | 0.0875 | likely_benign | 0.0812 | benign | 0.204 | Stabilizing | 0.014 | N | 0.467 | neutral | N | 0.459636434 | None | None | N |
| M/L | 0.1177 | likely_benign | 0.1097 | benign | -0.294 | Destabilizing | None | N | 0.186 | neutral | N | 0.408959684 | None | None | N |
| M/N | 0.233 | likely_benign | 0.2027 | benign | 0.315 | Stabilizing | 0.018 | N | 0.551 | neutral | None | None | None | None | N |
| M/P | 0.5594 | ambiguous | 0.4575 | ambiguous | -0.453 | Destabilizing | 0.085 | N | 0.56 | neutral | None | None | None | None | N |
| M/Q | 0.1269 | likely_benign | 0.1163 | benign | 0.191 | Stabilizing | 0.085 | N | 0.453 | neutral | None | None | None | None | N |
| M/R | 0.098 | likely_benign | 0.0902 | benign | 0.647 | Stabilizing | 0.033 | N | 0.517 | neutral | N | 0.456828202 | None | None | N |
| M/S | 0.1504 | likely_benign | 0.134 | benign | -0.236 | Destabilizing | 0.004 | N | 0.359 | neutral | None | None | None | None | N |
| M/T | 0.059 | likely_benign | 0.0542 | benign | -0.142 | Destabilizing | None | N | 0.29 | neutral | N | 0.343966843 | None | None | N |
| M/V | 0.0625 | likely_benign | 0.0607 | benign | -0.453 | Destabilizing | None | N | 0.215 | neutral | N | 0.404167153 | None | None | N |
| M/W | 0.5538 | ambiguous | 0.5291 | ambiguous | -0.215 | Destabilizing | 0.497 | N | 0.489 | neutral | None | None | None | None | N |
| M/Y | 0.4424 | ambiguous | 0.4239 | ambiguous | -0.111 | Destabilizing | 0.009 | N | 0.516 | 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.