Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7243 | 21952;21953;21954 | chr2:178723280;178723279;178723278 | chr2:179588007;179588006;179588005 |
| N2AB | 6926 | 21001;21002;21003 | chr2:178723280;178723279;178723278 | chr2:179588007;179588006;179588005 |
| N2A | 5999 | 18220;18221;18222 | chr2:178723280;178723279;178723278 | chr2:179588007;179588006;179588005 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs193060723  |
-0.533 | 0.27 | N | 0.408 | 0.066 | None | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs193060723 |
-0.533 | 0.27 | N | 0.408 | 0.066 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96644E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs193060723 |
-0.533 | 0.27 | N | 0.408 | 0.066 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/L | rs193060723 |
-0.533 | 0.27 | N | 0.408 | 0.066 | None | gnomAD-4.0.0 | 8.67717E-06 | None | None | None | None | N | None | 0 | 2.16717E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09847E-05 | 0 |
| P/S | None | None | 0.27 | N | 0.405 | 0.039 | 0.112648838833 | gnomAD-4.0.0 | 1.59201E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.0704 | likely_benign | 0.0749 | benign | -0.711 | Destabilizing | 0.01 | N | 0.133 | neutral | N | 0.4110494 | None | None | N |
| P/C | 0.4608 | ambiguous | 0.5138 | ambiguous | -0.596 | Destabilizing | 0.995 | D | 0.429 | neutral | None | None | None | None | N |
| P/D | 0.331 | likely_benign | 0.3777 | ambiguous | -0.382 | Destabilizing | 0.704 | D | 0.452 | neutral | None | None | None | None | N |
| P/E | 0.1715 | likely_benign | 0.1979 | benign | -0.492 | Destabilizing | 0.543 | D | 0.423 | neutral | None | None | None | None | N |
| P/F | 0.3734 | ambiguous | 0.4246 | ambiguous | -0.91 | Destabilizing | 0.893 | D | 0.464 | neutral | None | None | None | None | N |
| P/G | 0.2819 | likely_benign | 0.3042 | benign | -0.873 | Destabilizing | 0.495 | N | 0.443 | neutral | None | None | None | None | N |
| P/H | 0.1677 | likely_benign | 0.2022 | benign | -0.463 | Destabilizing | 0.981 | D | 0.429 | neutral | None | None | None | None | N |
| P/I | 0.2061 | likely_benign | 0.231 | benign | -0.428 | Destabilizing | 0.543 | D | 0.497 | neutral | None | None | None | None | N |
| P/K | 0.1975 | likely_benign | 0.2224 | benign | -0.515 | Destabilizing | 0.003 | N | 0.133 | neutral | None | None | None | None | N |
| P/L | 0.0929 | likely_benign | 0.1046 | benign | -0.428 | Destabilizing | 0.27 | N | 0.408 | neutral | N | 0.420266316 | None | None | N |
| P/M | 0.2284 | likely_benign | 0.2546 | benign | -0.299 | Destabilizing | 0.176 | N | 0.295 | neutral | None | None | None | None | N |
| P/N | 0.2607 | likely_benign | 0.2959 | benign | -0.187 | Destabilizing | 0.704 | D | 0.485 | neutral | None | None | None | None | N |
| P/Q | 0.1267 | likely_benign | 0.153 | benign | -0.463 | Destabilizing | 0.642 | D | 0.498 | neutral | N | 0.460806217 | None | None | N |
| P/R | 0.1323 | likely_benign | 0.1549 | benign | 0.027 | Stabilizing | 0.473 | N | 0.505 | neutral | N | 0.471580571 | None | None | N |
| P/S | 0.1227 | likely_benign | 0.1376 | benign | -0.597 | Destabilizing | 0.27 | N | 0.405 | neutral | N | 0.452725452 | None | None | N |
| P/T | 0.0826 | likely_benign | 0.0918 | benign | -0.606 | Destabilizing | 0.01 | N | 0.127 | neutral | N | 0.460632859 | None | None | N |
| P/V | 0.1524 | likely_benign | 0.1614 | benign | -0.486 | Destabilizing | 0.031 | N | 0.172 | neutral | None | None | None | None | N |
| P/W | 0.5074 | ambiguous | 0.5807 | pathogenic | -0.975 | Destabilizing | 0.995 | D | 0.455 | neutral | None | None | None | None | N |
| P/Y | 0.3228 | likely_benign | 0.3744 | ambiguous | -0.676 | Destabilizing | 0.981 | D | 0.466 | 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.