Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21638 | 65137;65138;65139 | chr2:178584729;178584728;178584727 | chr2:179449456;179449455;179449454 |
| N2AB | 19997 | 60214;60215;60216 | chr2:178584729;178584728;178584727 | chr2:179449456;179449455;179449454 |
| N2A | 19070 | 57433;57434;57435 | chr2:178584729;178584728;178584727 | chr2:179449456;179449455;179449454 |
| N2B | 12573 | 37942;37943;37944 | chr2:178584729;178584728;178584727 | chr2:179449456;179449455;179449454 |
| Novex-1 | 12698 | 38317;38318;38319 | chr2:178584729;178584728;178584727 | chr2:179449456;179449455;179449454 |
| Novex-2 | 12765 | 38518;38519;38520 | chr2:178584729;178584728;178584727 | chr2:179449456;179449455;179449454 |
| 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/D | rs757843701  |
-2.81 | 0.999 | D | 0.628 | 0.685 | 0.468336420597 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| N/D | rs757843701 |
-2.81 | 0.999 | D | 0.628 | 0.685 | 0.468336420597 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/D | rs757843701 |
-2.81 | 0.999 | D | 0.628 | 0.685 | 0.468336420597 | gnomAD-4.0.0 | 4.95873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78211E-06 | 0 | 0 |
| N/K | None | None | 1.0 | D | 0.759 | 0.599 | 0.229924730088 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02608E-05 |
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 | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| N/C | 0.986 | likely_pathogenic | 0.9854 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/D | 0.9932 | likely_pathogenic | 0.9959 | pathogenic | -2.273 | Highly Destabilizing | 0.999 | D | 0.628 | neutral | D | 0.565646858 | None | None | N |
| N/E | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.096 | Highly Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| N/F | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| N/G | 0.9951 | likely_pathogenic | 0.996 | pathogenic | -1.197 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| N/H | 0.9945 | likely_pathogenic | 0.9969 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.54931703 | None | None | N |
| N/I | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.556318469 | None | None | N |
| N/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.555051021 | None | None | N |
| N/L | 0.9967 | likely_pathogenic | 0.9974 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| N/M | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| N/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| N/Q | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/R | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/S | 0.9627 | likely_pathogenic | 0.9709 | pathogenic | -1.107 | Destabilizing | 0.999 | D | 0.621 | neutral | N | 0.517068084 | None | None | N |
| N/T | 0.9892 | likely_pathogenic | 0.9914 | pathogenic | -0.781 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | N | 0.518647793 | None | None | N |
| N/V | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| N/W | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| N/Y | 0.9974 | likely_pathogenic | 0.9983 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.567421285 | 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.