Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29562 | 88909;88910;88911 | chr2:178554663;178554662;178554661 | chr2:179419390;179419389;179419388 |
| N2AB | 27921 | 83986;83987;83988 | chr2:178554663;178554662;178554661 | chr2:179419390;179419389;179419388 |
| N2A | 26994 | 81205;81206;81207 | chr2:178554663;178554662;178554661 | chr2:179419390;179419389;179419388 |
| N2B | 20497 | 61714;61715;61716 | chr2:178554663;178554662;178554661 | chr2:179419390;179419389;179419388 |
| Novex-1 | 20622 | 62089;62090;62091 | chr2:178554663;178554662;178554661 | chr2:179419390;179419389;179419388 |
| Novex-2 | 20689 | 62290;62291;62292 | chr2:178554663;178554662;178554661 | chr2:179419390;179419389;179419388 |
| 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/D | rs72648235  |
-0.475 | 1.0 | N | 0.869 | 0.542 | None | gnomAD-2.1.1 | 2.0351E-04 | None | None | None | None | N | None | 8.26E-05 | 8.76647E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.48514E-04 | 7.0205E-04 |
| G/D | rs72648235 |
-0.475 | 1.0 | N | 0.869 | 0.542 | None | gnomAD-3.1.2 | 1.3142E-04 | None | None | None | None | N | None | 7.24E-05 | 3.92824E-04 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 8.82E-05 | 0 | 1.91205E-03 |
| G/D | rs72648235 |
-0.475 | 1.0 | N | 0.869 | 0.542 | None | gnomAD-4.0.0 | 1.64826E-04 | None | None | None | None | N | None | 1.06763E-04 | 7.33358E-04 | None | 0 | 0 | None | 0 | 1.97239E-03 | 1.44086E-04 | 2.19582E-05 | 4.80292E-04 |
| G/S | rs760886476 |
-0.814 | 1.0 | N | 0.781 | 0.507 | 0.361758802978 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11408E-04 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs760886476 |
-0.814 | 1.0 | N | 0.781 | 0.507 | 0.361758802978 | gnomAD-4.0.0 | 1.59104E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77331E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9157 | likely_pathogenic | 0.9291 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | N | 0.508591253 | None | None | N |
| G/C | 0.9772 | likely_pathogenic | 0.981 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.525000441 | None | None | N |
| G/D | 0.9949 | likely_pathogenic | 0.9951 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.515464107 | None | None | N |
| G/E | 0.996 | likely_pathogenic | 0.9966 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/F | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/H | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/I | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/K | 0.9954 | likely_pathogenic | 0.9956 | pathogenic | -0.722 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/L | 0.9965 | likely_pathogenic | 0.997 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/M | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/N | 0.9955 | likely_pathogenic | 0.996 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/Q | 0.9955 | likely_pathogenic | 0.996 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/R | 0.9814 | likely_pathogenic | 0.9835 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.486283489 | None | None | N |
| G/S | 0.9151 | likely_pathogenic | 0.9308 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.476217403 | None | None | N |
| G/T | 0.99 | likely_pathogenic | 0.9915 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/V | 0.9938 | likely_pathogenic | 0.9945 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.535849767 | None | None | N |
| G/W | 0.9948 | likely_pathogenic | 0.9957 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/Y | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.789 | deleterious | 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.