Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15681 | 47266;47267;47268 | chr2:178618417;178618416;178618415 | chr2:179483144;179483143;179483142 |
| N2AB | 14040 | 42343;42344;42345 | chr2:178618417;178618416;178618415 | chr2:179483144;179483143;179483142 |
| N2A | 13113 | 39562;39563;39564 | chr2:178618417;178618416;178618415 | chr2:179483144;179483143;179483142 |
| N2B | 6616 | 20071;20072;20073 | chr2:178618417;178618416;178618415 | chr2:179483144;179483143;179483142 |
| Novex-1 | 6741 | 20446;20447;20448 | chr2:178618417;178618416;178618415 | chr2:179483144;179483143;179483142 |
| Novex-2 | 6808 | 20647;20648;20649 | chr2:178618417;178618416;178618415 | chr2:179483144;179483143;179483142 |
| 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/R | None | None | 1.0 | D | 0.879 | 0.651 | 0.601974941769 | gnomAD-4.0.0 | 1.59397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03141E-05 |
| P/S | rs768557263  |
-2.66 | 1.0 | D | 0.823 | 0.524 | 0.457013227636 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs768557263 |
-2.66 | 1.0 | D | 0.823 | 0.524 | 0.457013227636 | gnomAD-4.0.0 | 1.59396E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 0 |
| P/T | None | None | 1.0 | D | 0.823 | 0.601 | 0.538974603628 | gnomAD-4.0.0 | 1.59396E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86254E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8687 | likely_pathogenic | 0.8619 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.65848377 | None | None | N |
| P/C | 0.9886 | likely_pathogenic | 0.988 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| P/D | 0.994 | likely_pathogenic | 0.9939 | pathogenic | -2.181 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/E | 0.9925 | likely_pathogenic | 0.9912 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/G | 0.9678 | likely_pathogenic | 0.9626 | pathogenic | -2.388 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/H | 0.9943 | likely_pathogenic | 0.9949 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.786474967 | None | None | N |
| P/I | 0.9927 | likely_pathogenic | 0.9912 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/K | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/L | 0.9763 | likely_pathogenic | 0.9758 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.782380984 | None | None | N |
| P/M | 0.9944 | likely_pathogenic | 0.9942 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9927 | likely_pathogenic | 0.9916 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Q | 0.9931 | likely_pathogenic | 0.9934 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/R | 0.9914 | likely_pathogenic | 0.991 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.731686857 | None | None | N |
| P/S | 0.9679 | likely_pathogenic | 0.9672 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.619458816 | None | None | N |
| P/T | 0.9575 | likely_pathogenic | 0.9486 | pathogenic | -2.004 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.714875402 | None | None | N |
| P/V | 0.9741 | likely_pathogenic | 0.9685 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/Y | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.879 | 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.