Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18552 | 55879;55880;55881 | chr2:178601343;178601342;178601341 | chr2:179466070;179466069;179466068 |
| N2AB | 16911 | 50956;50957;50958 | chr2:178601343;178601342;178601341 | chr2:179466070;179466069;179466068 |
| N2A | 15984 | 48175;48176;48177 | chr2:178601343;178601342;178601341 | chr2:179466070;179466069;179466068 |
| N2B | 9487 | 28684;28685;28686 | chr2:178601343;178601342;178601341 | chr2:179466070;179466069;179466068 |
| Novex-1 | 9612 | 29059;29060;29061 | chr2:178601343;178601342;178601341 | chr2:179466070;179466069;179466068 |
| Novex-2 | 9679 | 29260;29261;29262 | chr2:178601343;178601342;178601341 | chr2:179466070;179466069;179466068 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs763966394  |
-1.548 | 1.0 | N | 0.815 | 0.519 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/C | rs763966394 |
-1.548 | 1.0 | N | 0.815 | 0.519 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs763966394 |
-1.548 | 1.0 | N | 0.815 | 0.519 | None | gnomAD-4.0.0 | 9.31205E-06 | None | None | None | None | N | None | 2.67423E-05 | 0 | None | 0 | 2.24235E-05 | None | 0 | 0 | 9.33664E-06 | 1.10246E-05 | 0 |
| R/H | rs201774108 |
-2.236 | 1.0 | D | 0.818 | 0.644 | None | gnomAD-2.1.1 | 1.1872E-04 | None | None | None | None | N | None | 8.28E-05 | 5.7E-05 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 2.12592E-04 | 1.41683E-04 |
| R/H | rs201774108 |
-2.236 | 1.0 | D | 0.818 | 0.644 | None | gnomAD-3.1.2 | 1.18429E-04 | None | None | None | None | N | None | 9.66E-05 | 3.28299E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.17692E-04 | 0 | 4.78011E-04 |
| R/H | rs201774108 |
-2.236 | 1.0 | D | 0.818 | 0.644 | None | gnomAD-4.0.0 | 1.31E-04 | None | None | None | None | N | None | 5.34774E-05 | 2.17602E-04 | None | 0 | 0 | None | 3.12744E-05 | 0 | 1.52788E-04 | 1.10288E-05 | 1.76452E-04 |
| R/P | rs201774108 |
-1.286 | 1.0 | D | 0.814 | 0.694 | 0.767104620005 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.58762E-04 | None | 0 | None | 0 | 0 | 0 |
| R/P | rs201774108 |
-1.286 | 1.0 | D | 0.814 | 0.694 | 0.767104620005 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94477E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/P | rs201774108 |
-1.286 | 1.0 | D | 0.814 | 0.694 | 0.767104620005 | gnomAD-4.0.0 | 1.24171E-06 | None | None | None | None | N | None | 1.33693E-05 | 0 | None | 0 | 2.24175E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9657 | likely_pathogenic | 0.9454 | pathogenic | -1.816 | Destabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| R/C | 0.666 | likely_pathogenic | 0.5518 | ambiguous | -1.77 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.519839562 | None | None | N |
| R/D | 0.9983 | likely_pathogenic | 0.9974 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/E | 0.9706 | likely_pathogenic | 0.9524 | pathogenic | -0.861 | Destabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| R/F | 0.993 | likely_pathogenic | 0.9874 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| R/G | 0.9779 | likely_pathogenic | 0.9606 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.542463267 | None | None | N |
| R/H | 0.6685 | likely_pathogenic | 0.5801 | pathogenic | -2.11 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.531195867 | None | None | N |
| R/I | 0.9378 | likely_pathogenic | 0.9168 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| R/K | 0.532 | ambiguous | 0.4395 | ambiguous | -1.355 | Destabilizing | 0.998 | D | 0.655 | neutral | None | None | None | None | N |
| R/L | 0.9205 | likely_pathogenic | 0.8796 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.497126951 | None | None | N |
| R/M | 0.9591 | likely_pathogenic | 0.9325 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/N | 0.9932 | likely_pathogenic | 0.9889 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/P | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.542970246 | None | None | N |
| R/Q | 0.4866 | ambiguous | 0.373 | ambiguous | -1.134 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/S | 0.9825 | likely_pathogenic | 0.9715 | pathogenic | -2.109 | Highly Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.494565602 | None | None | N |
| R/T | 0.9641 | likely_pathogenic | 0.9445 | pathogenic | -1.706 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| R/V | 0.9348 | likely_pathogenic | 0.9125 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| R/W | 0.9248 | likely_pathogenic | 0.8811 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/Y | 0.9811 | likely_pathogenic | 0.9674 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.844 | deleterious | 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.