Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30824 | 92695;92696;92697 | chr2:178549156;178549155;178549154 | chr2:179413883;179413882;179413881 |
| N2AB | 29183 | 87772;87773;87774 | chr2:178549156;178549155;178549154 | chr2:179413883;179413882;179413881 |
| N2A | 28256 | 84991;84992;84993 | chr2:178549156;178549155;178549154 | chr2:179413883;179413882;179413881 |
| N2B | 21759 | 65500;65501;65502 | chr2:178549156;178549155;178549154 | chr2:179413883;179413882;179413881 |
| Novex-1 | 21884 | 65875;65876;65877 | chr2:178549156;178549155;178549154 | chr2:179413883;179413882;179413881 |
| Novex-2 | 21951 | 66076;66077;66078 | chr2:178549156;178549155;178549154 | chr2:179413883;179413882;179413881 |
| 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 | rs1364127443  |
-0.178 | 0.055 | N | 0.672 | 0.352 | 0.40417439687 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1364127443 |
-0.178 | 0.055 | N | 0.672 | 0.352 | 0.40417439687 | gnomAD-4.0.0 | 1.59125E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.775E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs757687130 |
-1.063 | 0.005 | N | 0.431 | 0.157 | 0.159798565429 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| P/S | rs757687130 |
-1.063 | 0.005 | N | 0.431 | 0.157 | 0.159798565429 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs757687130 |
-1.063 | 0.005 | N | 0.431 | 0.157 | 0.159798565429 | gnomAD-4.0.0 | 8.96778E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.67495E-05 | 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 | 0.0547 | likely_benign | 0.0528 | benign | -1.209 | Destabilizing | None | N | 0.296 | neutral | N | 0.510568608 | None | None | I |
| P/C | 0.2801 | likely_benign | 0.2872 | benign | -0.948 | Destabilizing | 0.356 | N | 0.715 | prob.delet. | None | None | None | None | I |
| P/D | 0.4964 | ambiguous | 0.5231 | ambiguous | -1.528 | Destabilizing | 0.031 | N | 0.509 | neutral | None | None | None | None | I |
| P/E | 0.2832 | likely_benign | 0.2827 | benign | -1.6 | Destabilizing | 0.031 | N | 0.483 | neutral | None | None | None | None | I |
| P/F | 0.3642 | ambiguous | 0.3402 | ambiguous | -1.335 | Destabilizing | 0.356 | N | 0.735 | prob.delet. | None | None | None | None | I |
| P/G | 0.2096 | likely_benign | 0.2141 | benign | -1.429 | Destabilizing | 0.007 | N | 0.495 | neutral | None | None | None | None | I |
| P/H | 0.2152 | likely_benign | 0.2347 | benign | -0.952 | Destabilizing | 0.56 | D | 0.699 | prob.neutral | D | 0.539372167 | None | None | I |
| P/I | 0.2098 | likely_benign | 0.1905 | benign | -0.729 | Destabilizing | 0.072 | N | 0.665 | neutral | None | None | None | None | I |
| P/K | 0.2444 | likely_benign | 0.2607 | benign | -0.873 | Destabilizing | 0.031 | N | 0.493 | neutral | None | None | None | None | I |
| P/L | 0.1126 | likely_benign | 0.1092 | benign | -0.729 | Destabilizing | 0.005 | N | 0.542 | neutral | D | 0.527762372 | None | None | I |
| P/M | 0.1946 | likely_benign | 0.1845 | benign | -0.464 | Destabilizing | 0.356 | N | 0.697 | prob.neutral | None | None | None | None | I |
| P/N | 0.3098 | likely_benign | 0.3132 | benign | -0.672 | Destabilizing | 0.136 | N | 0.681 | prob.neutral | None | None | None | None | I |
| P/Q | 0.1439 | likely_benign | 0.1508 | benign | -1.005 | Destabilizing | 0.136 | N | 0.601 | neutral | None | None | None | None | I |
| P/R | 0.1821 | likely_benign | 0.2047 | benign | -0.285 | Destabilizing | 0.055 | N | 0.672 | neutral | N | 0.517278213 | None | None | I |
| P/S | 0.1079 | likely_benign | 0.1076 | benign | -1.07 | Destabilizing | 0.005 | N | 0.431 | neutral | N | 0.49841349 | None | None | I |
| P/T | 0.0993 | likely_benign | 0.1002 | benign | -1.049 | Destabilizing | None | N | 0.353 | neutral | N | 0.513924078 | None | None | I |
| P/V | 0.1476 | likely_benign | 0.1376 | benign | -0.856 | Destabilizing | 0.007 | N | 0.519 | neutral | None | None | None | None | I |
| P/W | 0.6279 | likely_pathogenic | 0.639 | pathogenic | -1.427 | Destabilizing | 0.864 | D | 0.703 | prob.neutral | None | None | None | None | I |
| P/Y | 0.3493 | ambiguous | 0.3677 | ambiguous | -1.11 | Destabilizing | 0.356 | N | 0.729 | prob.delet. | None | None | None | None | I |
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.