Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20882 | 62869;62870;62871 | chr2:178589081;178589080;178589079 | chr2:179453808;179453807;179453806 |
| N2AB | 19241 | 57946;57947;57948 | chr2:178589081;178589080;178589079 | chr2:179453808;179453807;179453806 |
| N2A | 18314 | 55165;55166;55167 | chr2:178589081;178589080;178589079 | chr2:179453808;179453807;179453806 |
| N2B | 11817 | 35674;35675;35676 | chr2:178589081;178589080;178589079 | chr2:179453808;179453807;179453806 |
| Novex-1 | 11942 | 36049;36050;36051 | chr2:178589081;178589080;178589079 | chr2:179453808;179453807;179453806 |
| Novex-2 | 12009 | 36250;36251;36252 | chr2:178589081;178589080;178589079 | chr2:179453808;179453807;179453806 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs538308579  |
-0.901 | 0.027 | N | 0.38 | 0.043 | 0.130388298395 | gnomAD-2.1.1 | 2.17E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.07641E-04 | None | 6.54E-05 | None | 0 | 0 | 0 |
| T/A | rs538308579 |
-0.901 | 0.027 | N | 0.38 | 0.043 | 0.130388298395 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/A | rs538308579 |
-0.901 | 0.027 | N | 0.38 | 0.043 | 0.130388298395 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| T/A | rs538308579 |
-0.901 | 0.027 | N | 0.38 | 0.043 | 0.130388298395 | gnomAD-4.0.0 | 8.6963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.71772E-05 | None | 0 | 0 | 0 | 4.39203E-05 | 1.12104E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0906 | likely_benign | 0.0815 | benign | -0.706 | Destabilizing | 0.027 | N | 0.38 | neutral | N | 0.493316572 | None | None | N |
| T/C | 0.3312 | likely_benign | 0.2785 | benign | -0.649 | Destabilizing | 0.824 | D | 0.541 | neutral | None | None | None | None | N |
| T/D | 0.4886 | ambiguous | 0.4715 | ambiguous | -1.247 | Destabilizing | 0.081 | N | 0.489 | neutral | None | None | None | None | N |
| T/E | 0.3344 | likely_benign | 0.3455 | ambiguous | -1.212 | Destabilizing | 0.081 | N | 0.482 | neutral | None | None | None | None | N |
| T/F | 0.2309 | likely_benign | 0.2004 | benign | -0.795 | Destabilizing | 0.555 | D | 0.615 | neutral | None | None | None | None | N |
| T/G | 0.2881 | likely_benign | 0.2398 | benign | -0.991 | Destabilizing | 0.081 | N | 0.516 | neutral | None | None | None | None | N |
| T/H | 0.1803 | likely_benign | 0.1686 | benign | -1.397 | Destabilizing | 0.555 | D | 0.601 | neutral | None | None | None | None | N |
| T/I | 0.1244 | likely_benign | 0.1222 | benign | -0.029 | Destabilizing | 0.317 | N | 0.553 | neutral | N | 0.502109414 | None | None | N |
| T/K | 0.1223 | likely_benign | 0.1417 | benign | -0.843 | Destabilizing | 0.001 | N | 0.303 | neutral | None | None | None | None | N |
| T/L | 0.0955 | likely_benign | 0.0898 | benign | -0.029 | Destabilizing | 0.149 | N | 0.485 | neutral | None | None | None | None | N |
| T/M | 0.0851 | likely_benign | 0.0882 | benign | 0.321 | Stabilizing | 0.791 | D | 0.55 | neutral | None | None | None | None | N |
| T/N | 0.1458 | likely_benign | 0.1329 | benign | -1.062 | Destabilizing | 0.062 | N | 0.441 | neutral | N | 0.506957873 | None | None | N |
| T/P | 0.5935 | likely_pathogenic | 0.551 | ambiguous | -0.222 | Destabilizing | 0.317 | N | 0.551 | neutral | N | 0.495161487 | None | None | N |
| T/Q | 0.1716 | likely_benign | 0.1873 | benign | -1.236 | Destabilizing | 0.081 | N | 0.537 | neutral | None | None | None | None | N |
| T/R | 0.1124 | likely_benign | 0.1216 | benign | -0.639 | Destabilizing | None | N | 0.297 | neutral | None | None | None | None | N |
| T/S | 0.1086 | likely_benign | 0.0957 | benign | -1.178 | Destabilizing | None | N | 0.246 | neutral | N | 0.485465093 | None | None | N |
| T/V | 0.1005 | likely_benign | 0.0952 | benign | -0.222 | Destabilizing | 0.149 | N | 0.445 | neutral | None | None | None | None | N |
| T/W | 0.526 | ambiguous | 0.4802 | ambiguous | -0.831 | Destabilizing | 0.935 | D | 0.631 | neutral | None | None | None | None | N |
| T/Y | 0.2363 | likely_benign | 0.2082 | benign | -0.52 | Destabilizing | 0.555 | D | 0.615 | neutral | 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.