Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18712 | 56359;56360;56361 | chr2:178599767;178599766;178599765 | chr2:179464494;179464493;179464492 |
| N2AB | 17071 | 51436;51437;51438 | chr2:178599767;178599766;178599765 | chr2:179464494;179464493;179464492 |
| N2A | 16144 | 48655;48656;48657 | chr2:178599767;178599766;178599765 | chr2:179464494;179464493;179464492 |
| N2B | 9647 | 29164;29165;29166 | chr2:178599767;178599766;178599765 | chr2:179464494;179464493;179464492 |
| Novex-1 | 9772 | 29539;29540;29541 | chr2:178599767;178599766;178599765 | chr2:179464494;179464493;179464492 |
| Novex-2 | 9839 | 29740;29741;29742 | chr2:178599767;178599766;178599765 | chr2:179464494;179464493;179464492 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | D | 0.753 | 0.828 | 0.599832994901 | gnomAD-4.0.0 | 6.85089E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00135E-07 | 0 | 0 |
| P/L | rs780740937  |
0.04 | 1.0 | D | 0.773 | 0.808 | 0.882796826995 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs780740937 |
0.04 | 1.0 | D | 0.773 | 0.808 | 0.882796826995 | gnomAD-4.0.0 | 1.59566E-06 | None | None | None | None | I | None | 0 | 2.29474E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs747472312 |
-0.798 | 1.0 | D | 0.764 | 0.829 | 0.59271447433 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.69147E-04 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs747472312 |
-0.798 | 1.0 | D | 0.764 | 0.829 | 0.59271447433 | gnomAD-4.0.0 | 2.74036E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 7.59417E-05 | None | 0 | 0 | 9.00135E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9156 | likely_pathogenic | 0.8999 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.557505871 | None | None | I |
| P/C | 0.9904 | likely_pathogenic | 0.9869 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| P/D | 0.9848 | likely_pathogenic | 0.98 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/E | 0.9814 | likely_pathogenic | 0.9779 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/F | 0.9958 | likely_pathogenic | 0.9943 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| P/G | 0.9769 | likely_pathogenic | 0.9724 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/H | 0.972 | likely_pathogenic | 0.9648 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| P/I | 0.9753 | likely_pathogenic | 0.9686 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| P/K | 0.9871 | likely_pathogenic | 0.9842 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/L | 0.9301 | likely_pathogenic | 0.9126 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.631280262 | None | None | I |
| P/M | 0.9849 | likely_pathogenic | 0.9824 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| P/N | 0.9837 | likely_pathogenic | 0.9793 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| P/Q | 0.9699 | likely_pathogenic | 0.9645 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.568862176 | None | None | I |
| P/R | 0.9614 | likely_pathogenic | 0.9523 | pathogenic | -0.069 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.630876654 | None | None | I |
| P/S | 0.9652 | likely_pathogenic | 0.9549 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.550250942 | None | None | I |
| P/T | 0.9305 | likely_pathogenic | 0.9158 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.762 | deleterious | D | 0.630876654 | None | None | I |
| P/V | 0.9551 | likely_pathogenic | 0.9459 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/W | 0.9976 | likely_pathogenic | 0.9964 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/Y | 0.9929 | likely_pathogenic | 0.9906 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.823 | 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.