Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23556 | 70891;70892;70893 | chr2:178575466;178575465;178575464 | chr2:179440193;179440192;179440191 |
| N2AB | 21915 | 65968;65969;65970 | chr2:178575466;178575465;178575464 | chr2:179440193;179440192;179440191 |
| N2A | 20988 | 63187;63188;63189 | chr2:178575466;178575465;178575464 | chr2:179440193;179440192;179440191 |
| N2B | 14491 | 43696;43697;43698 | chr2:178575466;178575465;178575464 | chr2:179440193;179440192;179440191 |
| Novex-1 | 14616 | 44071;44072;44073 | chr2:178575466;178575465;178575464 | chr2:179440193;179440192;179440191 |
| Novex-2 | 14683 | 44272;44273;44274 | chr2:178575466;178575465;178575464 | chr2:179440193;179440192;179440191 |
| 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 | rs750670403  |
-2.154 | 1.0 | D | 0.81 | 0.651 | 0.520002024791 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs750670403 |
-2.154 | 1.0 | D | 0.81 | 0.651 | 0.520002024791 | gnomAD-4.0.0 | 6.84277E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52143E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1230878552 |
-0.721 | 1.0 | D | 0.903 | 0.665 | 0.802593093059 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| P/L | rs1230878552 |
-0.721 | 1.0 | D | 0.903 | 0.665 | 0.802593093059 | gnomAD-4.0.0 | 1.5916E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85899E-06 | 0 | 0 |
| P/T | rs750670403 |
-2.341 | 1.0 | D | 0.83 | 0.691 | 0.580217753726 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23214E-04 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs750670403 |
-2.341 | 1.0 | D | 0.83 | 0.691 | 0.580217753726 | gnomAD-4.0.0 | 5.47422E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.01715E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8606 | likely_pathogenic | 0.8462 | pathogenic | -2.15 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.577418063 | None | None | N |
| P/C | 0.9839 | likely_pathogenic | 0.9845 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/D | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -2.713 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/E | 0.9948 | likely_pathogenic | 0.9939 | pathogenic | -2.598 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/G | 0.9814 | likely_pathogenic | 0.9788 | pathogenic | -2.586 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.9929 | likely_pathogenic | 0.9925 | pathogenic | -2.374 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.634903815 | None | None | N |
| P/I | 0.9895 | likely_pathogenic | 0.9888 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/K | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.9627 | likely_pathogenic | 0.9587 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.617643269 | None | None | N |
| P/M | 0.9913 | likely_pathogenic | 0.9904 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9951 | likely_pathogenic | 0.9947 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Q | 0.9899 | likely_pathogenic | 0.9888 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/R | 0.9919 | likely_pathogenic | 0.9907 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.599645149 | None | None | N |
| P/S | 0.9641 | likely_pathogenic | 0.9618 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.567263539 | None | None | N |
| P/T | 0.959 | likely_pathogenic | 0.9565 | pathogenic | -2.177 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.605247461 | None | None | N |
| P/V | 0.9664 | likely_pathogenic | 0.9651 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.934 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/Y | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.89 | 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.