Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28785 | 86578;86579;86580 | chr2:178559779;178559778;178559777 | chr2:179424506;179424505;179424504 |
| N2AB | 27144 | 81655;81656;81657 | chr2:178559779;178559778;178559777 | chr2:179424506;179424505;179424504 |
| N2A | 26217 | 78874;78875;78876 | chr2:178559779;178559778;178559777 | chr2:179424506;179424505;179424504 |
| N2B | 19720 | 59383;59384;59385 | chr2:178559779;178559778;178559777 | chr2:179424506;179424505;179424504 |
| Novex-1 | 19845 | 59758;59759;59760 | chr2:178559779;178559778;178559777 | chr2:179424506;179424505;179424504 |
| Novex-2 | 19912 | 59959;59960;59961 | chr2:178559779;178559778;178559777 | chr2:179424506;179424505;179424504 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs745857020  |
0.157 | 0.062 | N | 0.311 | 0.165 | 0.0884992946249 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.45E-05 | None | 0 | 0 | 0 |
| N/K | rs745857020 |
0.157 | 0.062 | N | 0.311 | 0.165 | 0.0884992946249 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| N/K | rs745857020 |
0.157 | 0.062 | N | 0.311 | 0.165 | 0.0884992946249 | gnomAD-4.0.0 | 1.2461E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.23065E-05 | 0 |
| N/S | rs775051962 |
-0.343 | None | N | 0.143 | 0.209 | 0.0297737177859 | gnomAD-2.1.1 | 4.14E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.08E-06 | 0 |
| N/S | rs775051962 |
-0.343 | None | N | 0.143 | 0.209 | 0.0297737177859 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs775051962 |
-0.343 | None | N | 0.143 | 0.209 | 0.0297737177859 | gnomAD-4.0.0 | 1.86921E-06 | None | None | None | None | I | None | 1.33786E-05 | 0 | None | 0 | 0 | None | 0 | 1.65673E-04 | 8.5047E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1106 | likely_benign | 0.1018 | benign | -0.24 | Destabilizing | 0.035 | N | 0.385 | neutral | None | None | None | None | I |
| N/C | 0.1843 | likely_benign | 0.1776 | benign | 0.24 | Stabilizing | 0.824 | D | 0.527 | neutral | None | None | None | None | I |
| N/D | 0.1361 | likely_benign | 0.1223 | benign | 0.066 | Stabilizing | 0.062 | N | 0.353 | neutral | N | 0.439858595 | None | None | I |
| N/E | 0.2794 | likely_benign | 0.2534 | benign | 0.06 | Stabilizing | 0.081 | N | 0.322 | neutral | None | None | None | None | I |
| N/F | 0.3876 | ambiguous | 0.3617 | ambiguous | -0.521 | Destabilizing | 0.555 | D | 0.561 | neutral | None | None | None | None | I |
| N/G | 0.1707 | likely_benign | 0.1599 | benign | -0.446 | Destabilizing | 0.035 | N | 0.348 | neutral | None | None | None | None | I |
| N/H | 0.0878 | likely_benign | 0.0848 | benign | -0.465 | Destabilizing | 0.001 | N | 0.22 | neutral | N | 0.443400332 | None | None | I |
| N/I | 0.1491 | likely_benign | 0.1418 | benign | 0.221 | Stabilizing | 0.188 | N | 0.562 | neutral | N | 0.45794571 | None | None | I |
| N/K | 0.2308 | likely_benign | 0.2075 | benign | 0.008 | Stabilizing | 0.062 | N | 0.311 | neutral | N | 0.393278156 | None | None | I |
| N/L | 0.1674 | likely_benign | 0.1549 | benign | 0.221 | Stabilizing | 0.081 | N | 0.503 | neutral | None | None | None | None | I |
| N/M | 0.2084 | likely_benign | 0.1954 | benign | 0.331 | Stabilizing | 0.555 | D | 0.517 | neutral | None | None | None | None | I |
| N/P | 0.6725 | likely_pathogenic | 0.6392 | pathogenic | 0.096 | Stabilizing | 0.38 | N | 0.55 | neutral | None | None | None | None | I |
| N/Q | 0.2295 | likely_benign | 0.207 | benign | -0.4 | Destabilizing | 0.38 | N | 0.414 | neutral | None | None | None | None | I |
| N/R | 0.2583 | likely_benign | 0.2348 | benign | -0.008 | Destabilizing | 0.149 | N | 0.393 | neutral | None | None | None | None | I |
| N/S | 0.0596 | likely_benign | 0.0638 | benign | -0.228 | Destabilizing | None | N | 0.143 | neutral | N | 0.416576303 | None | None | I |
| N/T | 0.0723 | likely_benign | 0.0677 | benign | -0.084 | Destabilizing | None | N | 0.146 | neutral | N | 0.337598231 | None | None | I |
| N/V | 0.1304 | likely_benign | 0.1254 | benign | 0.096 | Stabilizing | 0.081 | N | 0.515 | neutral | None | None | None | None | I |
| N/W | 0.6786 | likely_pathogenic | 0.6424 | pathogenic | -0.529 | Destabilizing | 0.935 | D | 0.555 | neutral | None | None | None | None | I |
| N/Y | 0.1406 | likely_benign | 0.1317 | benign | -0.248 | Destabilizing | 0.317 | N | 0.55 | neutral | N | 0.510548044 | 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.