Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35359 | 106300;106301;106302 | chr2:178530540;178530539;178530538 | chr2:179395267;179395266;179395265 |
| N2AB | 33718 | 101377;101378;101379 | chr2:178530540;178530539;178530538 | chr2:179395267;179395266;179395265 |
| N2A | 32791 | 98596;98597;98598 | chr2:178530540;178530539;178530538 | chr2:179395267;179395266;179395265 |
| N2B | 26294 | 79105;79106;79107 | chr2:178530540;178530539;178530538 | chr2:179395267;179395266;179395265 |
| Novex-1 | 26419 | 79480;79481;79482 | chr2:178530540;178530539;178530538 | chr2:179395267;179395266;179395265 |
| Novex-2 | 26486 | 79681;79682;79683 | chr2:178530540;178530539;178530538 | chr2:179395267;179395266;179395265 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1414538562  |
-0.892 | 1.0 | D | 0.933 | 0.706 | 0.862525014085 | gnomAD-2.1.1 | 3.18E-05 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/R | rs1414538562 |
-0.892 | 1.0 | D | 0.933 | 0.706 | 0.862525014085 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/R | rs1414538562 |
-0.892 | 1.0 | D | 0.933 | 0.706 | 0.862525014085 | gnomAD-4.0.0 | 2.47847E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39012E-06 | 0 | 0 |
| C/W | None | None | 1.0 | D | 0.893 | 0.621 | 0.784202280294 | gnomAD-4.0.0 | 1.20037E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31256E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | D | 0.926 | 0.771 | 0.811517266189 | gnomAD-4.0.0 | 1.59092E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9176 | likely_pathogenic | 0.9298 | pathogenic | -1.639 | Destabilizing | 0.998 | D | 0.712 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | disulfide | None | N |
| C/F | 0.7902 | likely_pathogenic | 0.7879 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.539192173 | disulfide | None | N |
| C/G | 0.8459 | likely_pathogenic | 0.8612 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.551815926 | disulfide | None | N |
| C/H | 0.9963 | likely_pathogenic | 0.9962 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8931 | likely_pathogenic | 0.9007 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | disulfide | None | N |
| C/L | 0.7987 | likely_pathogenic | 0.8163 | pathogenic | -0.644 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | disulfide | None | N |
| C/M | 0.942 | likely_pathogenic | 0.9438 | pathogenic | 0.055 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9966 | likely_pathogenic | 0.997 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9915 | likely_pathogenic | 0.9918 | pathogenic | -1.621 | Destabilizing | 1.0 | D | 0.933 | deleterious | D | 0.540459621 | disulfide | None | N |
| C/S | 0.9644 | likely_pathogenic | 0.9685 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.551815926 | disulfide | None | N |
| C/T | 0.9699 | likely_pathogenic | 0.9735 | pathogenic | -1.715 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8388 | likely_pathogenic | 0.8544 | pathogenic | -0.953 | Destabilizing | 0.999 | D | 0.808 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9747 | likely_pathogenic | 0.9727 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.551815926 | disulfide | None | N |
| C/Y | 0.9623 | likely_pathogenic | 0.9611 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.551562437 | disulfide | 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.