Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6246 | 18961;18962;18963 | chr2:178729420;178729419;178729418 | chr2:179594147;179594146;179594145 |
| N2AB | 5929 | 18010;18011;18012 | chr2:178729420;178729419;178729418 | chr2:179594147;179594146;179594145 |
| N2A | 5002 | 15229;15230;15231 | chr2:178729420;178729419;178729418 | chr2:179594147;179594146;179594145 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1553920950  |
None | None | N | 0.102 | 0.12 | 0.134241683229 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| T/I | rs1252010867 |
-0.041 | 0.001 | N | 0.277 | 0.081 | 0.239305524855 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/I | rs1252010867 |
-0.041 | 0.001 | N | 0.277 | 0.081 | 0.239305524855 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1252010867 |
-0.041 | 0.001 | N | 0.277 | 0.081 | 0.239305524855 | gnomAD-4.0.0 | 9.13489E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13482E-04 | None | 0 | 0 | 9.63946E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0697 | likely_benign | 0.0707 | benign | -1.008 | Destabilizing | None | N | 0.102 | neutral | N | 0.495058516 | None | None | N |
| T/C | 0.2775 | likely_benign | 0.326 | benign | -0.79 | Destabilizing | 0.859 | D | 0.344 | neutral | None | None | None | None | N |
| T/D | 0.2393 | likely_benign | 0.2622 | benign | -0.879 | Destabilizing | 0.22 | N | 0.301 | neutral | None | None | None | None | N |
| T/E | 0.1988 | likely_benign | 0.2111 | benign | -0.846 | Destabilizing | 0.22 | N | 0.312 | neutral | None | None | None | None | N |
| T/F | 0.1131 | likely_benign | 0.1249 | benign | -1.23 | Destabilizing | 0.497 | N | 0.385 | neutral | None | None | None | None | N |
| T/G | 0.1754 | likely_benign | 0.1934 | benign | -1.271 | Destabilizing | None | N | 0.23 | neutral | None | None | None | None | N |
| T/H | 0.131 | likely_benign | 0.145 | benign | -1.657 | Destabilizing | 0.859 | D | 0.321 | neutral | None | None | None | None | N |
| T/I | 0.0837 | likely_benign | 0.0931 | benign | -0.387 | Destabilizing | 0.001 | N | 0.277 | neutral | N | 0.472395087 | None | None | N |
| T/K | 0.126 | likely_benign | 0.1346 | benign | -0.722 | Destabilizing | 0.175 | N | 0.314 | neutral | N | 0.420155326 | None | None | N |
| T/L | 0.063 | likely_benign | 0.0663 | benign | -0.387 | Destabilizing | 0.009 | N | 0.299 | neutral | None | None | None | None | N |
| T/M | 0.0751 | likely_benign | 0.0773 | benign | 0.017 | Stabilizing | 0.009 | N | 0.265 | neutral | None | None | None | None | N |
| T/N | 0.0824 | likely_benign | 0.0902 | benign | -0.884 | Destabilizing | 0.22 | N | 0.267 | neutral | None | None | None | None | N |
| T/P | 0.2788 | likely_benign | 0.2606 | benign | -0.563 | Destabilizing | 0.301 | N | 0.404 | neutral | D | 0.529133805 | None | None | N |
| T/Q | 0.1438 | likely_benign | 0.1541 | benign | -1.08 | Destabilizing | 0.667 | D | 0.404 | neutral | None | None | None | None | N |
| T/R | 0.0953 | likely_benign | 0.0981 | benign | -0.543 | Destabilizing | 0.427 | N | 0.409 | neutral | N | 0.424158423 | None | None | N |
| T/S | 0.0772 | likely_benign | 0.0816 | benign | -1.125 | Destabilizing | 0.001 | N | 0.097 | neutral | N | 0.436548931 | None | None | N |
| T/V | 0.0849 | likely_benign | 0.0936 | benign | -0.563 | Destabilizing | 0.004 | N | 0.101 | neutral | None | None | None | None | N |
| T/W | 0.3809 | ambiguous | 0.3954 | ambiguous | -1.18 | Destabilizing | 0.958 | D | 0.353 | neutral | None | None | None | None | N |
| T/Y | 0.1443 | likely_benign | 0.1597 | benign | -0.885 | Destabilizing | 0.667 | D | 0.34 | 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.