Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30327 | 91204;91205;91206 | chr2:178551921;178551920;178551919 | chr2:179416648;179416647;179416646 |
| N2AB | 28686 | 86281;86282;86283 | chr2:178551921;178551920;178551919 | chr2:179416648;179416647;179416646 |
| N2A | 27759 | 83500;83501;83502 | chr2:178551921;178551920;178551919 | chr2:179416648;179416647;179416646 |
| N2B | 21262 | 64009;64010;64011 | chr2:178551921;178551920;178551919 | chr2:179416648;179416647;179416646 |
| Novex-1 | 21387 | 64384;64385;64386 | chr2:178551921;178551920;178551919 | chr2:179416648;179416647;179416646 |
| Novex-2 | 21454 | 64585;64586;64587 | chr2:178551921;178551920;178551919 | chr2:179416648;179416647;179416646 |
| 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/L | rs770107107  |
-0.621 | 0.338 | N | 0.759 | 0.414 | 0.604789236398 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/L | rs770107107 |
-0.621 | 0.338 | N | 0.759 | 0.414 | 0.604789236398 | gnomAD-4.0.0 | 3.18298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86582E-05 | 0 |
| P/R | rs770107107 |
-0.189 | 0.782 | N | 0.754 | 0.451 | 0.464098490096 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| P/R | rs770107107 |
-0.189 | 0.782 | N | 0.754 | 0.451 | 0.464098490096 | gnomAD-4.0.0 | 3.18298E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85905E-06 | 0 | 3.02425E-05 |
| P/S | None | None | 0.013 | N | 0.433 | 0.139 | 0.149567049428 | gnomAD-4.0.0 | 6.84244E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99536E-07 | 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 | 0.0661 | likely_benign | 0.0809 | benign | -1.146 | Destabilizing | 0.001 | N | 0.404 | neutral | N | 0.447538636 | None | None | N |
| P/C | 0.3338 | likely_benign | 0.4541 | ambiguous | -1.035 | Destabilizing | 0.973 | D | 0.785 | deleterious | None | None | None | None | N |
| P/D | 0.7266 | likely_pathogenic | 0.8108 | pathogenic | -1.24 | Destabilizing | 0.826 | D | 0.688 | prob.neutral | None | None | None | None | N |
| P/E | 0.3858 | ambiguous | 0.4745 | ambiguous | -1.311 | Destabilizing | 0.575 | D | 0.685 | prob.neutral | None | None | None | None | N |
| P/F | 0.4004 | ambiguous | 0.5425 | ambiguous | -1.29 | Destabilizing | 0.906 | D | 0.809 | deleterious | None | None | None | None | N |
| P/G | 0.3616 | ambiguous | 0.4626 | ambiguous | -1.347 | Destabilizing | 0.404 | N | 0.739 | prob.delet. | None | None | None | None | N |
| P/H | 0.2307 | likely_benign | 0.301 | benign | -0.855 | Destabilizing | 0.988 | D | 0.757 | deleterious | D | 0.523242922 | None | None | N |
| P/I | 0.2133 | likely_benign | 0.2943 | benign | -0.728 | Destabilizing | 0.826 | D | 0.787 | deleterious | None | None | None | None | N |
| P/K | 0.3036 | likely_benign | 0.3825 | ambiguous | -0.769 | Destabilizing | 0.575 | D | 0.685 | prob.neutral | None | None | None | None | N |
| P/L | 0.1279 | likely_benign | 0.1723 | benign | -0.728 | Destabilizing | 0.338 | N | 0.759 | deleterious | N | 0.511468543 | None | None | N |
| P/M | 0.2348 | likely_benign | 0.3059 | benign | -0.561 | Destabilizing | 0.973 | D | 0.759 | deleterious | None | None | None | None | N |
| P/N | 0.3824 | ambiguous | 0.4935 | ambiguous | -0.595 | Destabilizing | 0.826 | D | 0.724 | prob.delet. | None | None | None | None | N |
| P/Q | 0.147 | likely_benign | 0.1904 | benign | -0.921 | Destabilizing | 0.906 | D | 0.694 | prob.neutral | None | None | None | None | N |
| P/R | 0.224 | likely_benign | 0.2986 | benign | -0.225 | Destabilizing | 0.782 | D | 0.754 | deleterious | N | 0.49884479 | None | None | N |
| P/S | 0.117 | likely_benign | 0.1593 | benign | -1.028 | Destabilizing | 0.013 | N | 0.433 | neutral | N | 0.509843463 | None | None | N |
| P/T | 0.1149 | likely_benign | 0.1528 | benign | -1.004 | Destabilizing | 0.338 | N | 0.665 | neutral | N | 0.488084369 | None | None | N |
| P/V | 0.1569 | likely_benign | 0.2096 | benign | -0.834 | Destabilizing | 0.404 | N | 0.732 | prob.delet. | None | None | None | None | N |
| P/W | 0.7121 | likely_pathogenic | 0.8209 | pathogenic | -1.345 | Destabilizing | 0.991 | D | 0.787 | deleterious | None | None | None | None | N |
| P/Y | 0.4563 | ambiguous | 0.5917 | pathogenic | -1.019 | Destabilizing | 0.967 | D | 0.809 | 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.