Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33655 | 101188;101189;101190 | chr2:178535652;178535651;178535650 | chr2:179400379;179400378;179400377 |
| N2AB | 32014 | 96265;96266;96267 | chr2:178535652;178535651;178535650 | chr2:179400379;179400378;179400377 |
| N2A | 31087 | 93484;93485;93486 | chr2:178535652;178535651;178535650 | chr2:179400379;179400378;179400377 |
| N2B | 24590 | 73993;73994;73995 | chr2:178535652;178535651;178535650 | chr2:179400379;179400378;179400377 |
| Novex-1 | 24715 | 74368;74369;74370 | chr2:178535652;178535651;178535650 | chr2:179400379;179400378;179400377 |
| Novex-2 | 24782 | 74569;74570;74571 | chr2:178535652;178535651;178535650 | chr2:179400379;179400378;179400377 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs984242810  |
None | 1.0 | N | 0.627 | 0.558 | 0.600342123009 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs984242810 |
None | 1.0 | N | 0.627 | 0.558 | 0.600342123009 | gnomAD-4.0.0 | 3.71809E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08562E-06 | 0 | 0 |
| F/Y | rs1032594285 |
-1.878 | 1.0 | D | 0.612 | 0.493 | 0.602748970639 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| F/Y | rs1032594285 |
-1.878 | 1.0 | D | 0.612 | 0.493 | 0.602748970639 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9976 | likely_pathogenic | 0.9948 | pathogenic | -3.402 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/C | 0.9809 | likely_pathogenic | 0.9574 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.498974873 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9991 | pathogenic | -4.188 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9991 | pathogenic | -3.957 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| F/G | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -3.843 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| F/H | 0.9935 | likely_pathogenic | 0.9873 | pathogenic | -2.64 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/I | 0.8735 | likely_pathogenic | 0.7482 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.383812445 | None | None | N |
| F/K | 0.9994 | likely_pathogenic | 0.9986 | pathogenic | -2.802 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/L | 0.9866 | likely_pathogenic | 0.9719 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.461924591 | None | None | N |
| F/M | 0.9628 | likely_pathogenic | 0.9231 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| F/N | 0.9978 | likely_pathogenic | 0.995 | pathogenic | -3.442 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| F/Q | 0.9989 | likely_pathogenic | 0.9976 | pathogenic | -3.328 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| F/R | 0.9982 | likely_pathogenic | 0.9966 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| F/S | 0.9968 | likely_pathogenic | 0.9927 | pathogenic | -3.907 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.525458781 | None | None | N |
| F/T | 0.998 | likely_pathogenic | 0.9951 | pathogenic | -3.563 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| F/V | 0.9391 | likely_pathogenic | 0.8712 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.475373891 | None | None | N |
| F/W | 0.9626 | likely_pathogenic | 0.9444 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| F/Y | 0.8483 | likely_pathogenic | 0.7675 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.612 | neutral | D | 0.52563214 | 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.