Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30571 | 91936;91937;91938 | chr2:178550127;178550126;178550125 | chr2:179414854;179414853;179414852 |
| N2AB | 28930 | 87013;87014;87015 | chr2:178550127;178550126;178550125 | chr2:179414854;179414853;179414852 |
| N2A | 28003 | 84232;84233;84234 | chr2:178550127;178550126;178550125 | chr2:179414854;179414853;179414852 |
| N2B | 21506 | 64741;64742;64743 | chr2:178550127;178550126;178550125 | chr2:179414854;179414853;179414852 |
| Novex-1 | 21631 | 65116;65117;65118 | chr2:178550127;178550126;178550125 | chr2:179414854;179414853;179414852 |
| Novex-2 | 21698 | 65317;65318;65319 | chr2:178550127;178550126;178550125 | chr2:179414854;179414853;179414852 |
| 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 | rs1284689627  |
0.386 | 0.01 | N | 0.132 | 0.145 | 0.215869574891 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65508E-04 |
| M/I | rs1284689627 |
0.386 | 0.01 | N | 0.132 | 0.145 | 0.215869574891 | gnomAD-4.0.0 | 1.5912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41196E-04 | 0 | 0 | 0 |
| M/T | rs1392457168 |
None | 0.01 | N | 0.139 | 0.166 | 0.264547087235 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99489E-07 | 0 | 0 |
| M/V | rs777664993 |
0.312 | 0.065 | N | 0.143 | 0.156 | 0.183819452728 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| M/V | rs777664993 |
0.312 | 0.065 | N | 0.143 | 0.156 | 0.183819452728 | gnomAD-4.0.0 | 4.10525E-06 | None | None | None | None | N | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79683E-05 | 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 | 0.2743 | likely_benign | 0.3147 | benign | -0.126 | Destabilizing | 0.3 | N | 0.247 | neutral | None | None | None | None | N |
| M/C | 0.6445 | likely_pathogenic | 0.6296 | pathogenic | -0.282 | Destabilizing | 0.981 | D | 0.192 | neutral | None | None | None | None | N |
| M/D | 0.6489 | likely_pathogenic | 0.6699 | pathogenic | 0.334 | Stabilizing | 0.828 | D | 0.248 | neutral | None | None | None | None | N |
| M/E | 0.3827 | ambiguous | 0.417 | ambiguous | 0.263 | Stabilizing | 0.828 | D | 0.237 | neutral | None | None | None | None | N |
| M/F | 0.2988 | likely_benign | 0.3125 | benign | -0.21 | Destabilizing | 0.704 | D | 0.161 | neutral | None | None | None | None | N |
| M/G | 0.3736 | ambiguous | 0.4197 | ambiguous | -0.196 | Destabilizing | 0.828 | D | 0.253 | neutral | None | None | None | None | N |
| M/H | 0.4305 | ambiguous | 0.4528 | ambiguous | 0.378 | Stabilizing | 0.981 | D | 0.177 | neutral | None | None | None | None | N |
| M/I | 0.2825 | likely_benign | 0.2942 | benign | -0.044 | Destabilizing | 0.01 | N | 0.132 | neutral | N | 0.427232361 | None | None | N |
| M/K | 0.1819 | likely_benign | 0.2054 | benign | 0.432 | Stabilizing | 0.784 | D | 0.263 | neutral | N | 0.393887792 | None | None | N |
| M/L | 0.0925 | likely_benign | 0.0931 | benign | -0.044 | Destabilizing | 0.001 | N | 0.099 | neutral | N | 0.464499883 | None | None | N |
| M/N | 0.3066 | likely_benign | 0.3349 | benign | 0.599 | Stabilizing | 0.828 | D | 0.245 | neutral | None | None | None | None | N |
| M/P | 0.3638 | ambiguous | 0.3942 | ambiguous | -0.05 | Destabilizing | 0.936 | D | 0.268 | neutral | None | None | None | None | N |
| M/Q | 0.1979 | likely_benign | 0.2133 | benign | 0.437 | Stabilizing | 0.936 | D | 0.213 | neutral | None | None | None | None | N |
| M/R | 0.1823 | likely_benign | 0.2064 | benign | 0.826 | Stabilizing | 0.784 | D | 0.263 | neutral | N | 0.401237838 | None | None | N |
| M/S | 0.2949 | likely_benign | 0.3375 | benign | 0.221 | Stabilizing | 0.329 | N | 0.245 | neutral | None | None | None | None | N |
| M/T | 0.2016 | likely_benign | 0.2437 | benign | 0.231 | Stabilizing | 0.01 | N | 0.139 | neutral | N | 0.385788383 | None | None | N |
| M/V | 0.0991 | likely_benign | 0.1074 | benign | -0.05 | Destabilizing | 0.065 | N | 0.143 | neutral | N | 0.439718869 | None | None | N |
| M/W | 0.4949 | ambiguous | 0.505 | ambiguous | -0.24 | Destabilizing | 0.995 | D | 0.196 | neutral | None | None | None | None | N |
| M/Y | 0.4806 | ambiguous | 0.4765 | ambiguous | -0.022 | Destabilizing | 0.944 | D | 0.251 | 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.