Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29370 | 88333;88334;88335 | chr2:178557046;178557045;178557044 | chr2:179421773;179421772;179421771 |
| N2AB | 27729 | 83410;83411;83412 | chr2:178557046;178557045;178557044 | chr2:179421773;179421772;179421771 |
| N2A | 26802 | 80629;80630;80631 | chr2:178557046;178557045;178557044 | chr2:179421773;179421772;179421771 |
| N2B | 20305 | 61138;61139;61140 | chr2:178557046;178557045;178557044 | chr2:179421773;179421772;179421771 |
| Novex-1 | 20430 | 61513;61514;61515 | chr2:178557046;178557045;178557044 | chr2:179421773;179421772;179421771 |
| Novex-2 | 20497 | 61714;61715;61716 | chr2:178557046;178557045;178557044 | chr2:179421773;179421772;179421771 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs756679529  |
-1.442 | 1.0 | D | 0.895 | 0.721 | 0.822707988697 | gnomAD-2.1.1 | 4.43E-05 | None | None | None | None | N | None | 0 | 3.19063E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs756679529 |
-1.442 | 1.0 | D | 0.895 | 0.721 | 0.822707988697 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30941E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs756679529 |
-1.442 | 1.0 | D | 0.895 | 0.721 | 0.822707988697 | gnomAD-4.0.0 | 8.67571E-06 | None | None | None | None | N | None | 0 | 2.33357E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | None | None | 0.999 | D | 0.733 | 0.806 | 0.704662845536 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.997 | likely_pathogenic | 0.9948 | pathogenic | -3.775 | Highly Destabilizing | 0.991 | D | 0.846 | deleterious | None | None | None | None | N |
| Y/C | 0.9269 | likely_pathogenic | 0.8577 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.649499828 | None | None | N |
| Y/D | 0.9965 | likely_pathogenic | 0.9944 | pathogenic | -3.954 | Highly Destabilizing | 0.999 | D | 0.913 | deleterious | D | 0.665720993 | None | None | N |
| Y/E | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -3.75 | Highly Destabilizing | 0.999 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/F | 0.2486 | likely_benign | 0.1911 | benign | -1.508 | Destabilizing | 0.117 | N | 0.352 | neutral | N | 0.508456117 | None | None | N |
| Y/G | 0.9918 | likely_pathogenic | 0.9873 | pathogenic | -4.157 | Highly Destabilizing | 0.998 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/H | 0.977 | likely_pathogenic | 0.9595 | pathogenic | -2.762 | Highly Destabilizing | 0.999 | D | 0.733 | prob.delet. | D | 0.649298024 | None | None | N |
| Y/I | 0.9789 | likely_pathogenic | 0.9676 | pathogenic | -2.465 | Highly Destabilizing | 0.99 | D | 0.802 | deleterious | None | None | None | None | N |
| Y/K | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -2.635 | Highly Destabilizing | 0.999 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/L | 0.9574 | likely_pathogenic | 0.9416 | pathogenic | -2.465 | Highly Destabilizing | 0.966 | D | 0.777 | deleterious | None | None | None | None | N |
| Y/M | 0.9845 | likely_pathogenic | 0.976 | pathogenic | -2.208 | Highly Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| Y/N | 0.9695 | likely_pathogenic | 0.955 | pathogenic | -3.364 | Highly Destabilizing | 0.999 | D | 0.893 | deleterious | D | 0.665720993 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -2.923 | Highly Destabilizing | 0.999 | D | 0.922 | deleterious | None | None | None | None | N |
| Y/Q | 0.9985 | likely_pathogenic | 0.9973 | pathogenic | -3.132 | Highly Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | N |
| Y/R | 0.9951 | likely_pathogenic | 0.9929 | pathogenic | -2.309 | Highly Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/S | 0.9886 | likely_pathogenic | 0.9818 | pathogenic | -3.683 | Highly Destabilizing | 0.997 | D | 0.891 | deleterious | D | 0.649701632 | None | None | N |
| Y/T | 0.9964 | likely_pathogenic | 0.9944 | pathogenic | -3.369 | Highly Destabilizing | 0.998 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/V | 0.9663 | likely_pathogenic | 0.952 | pathogenic | -2.923 | Highly Destabilizing | 0.983 | D | 0.784 | deleterious | None | None | None | None | N |
| Y/W | 0.8839 | likely_pathogenic | 0.8237 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | 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.