Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19949 | 60070;60071;60072 | chr2:178592059;178592058;178592057 | chr2:179456786;179456785;179456784 |
| N2AB | 18308 | 55147;55148;55149 | chr2:178592059;178592058;178592057 | chr2:179456786;179456785;179456784 |
| N2A | 17381 | 52366;52367;52368 | chr2:178592059;178592058;178592057 | chr2:179456786;179456785;179456784 |
| N2B | 10884 | 32875;32876;32877 | chr2:178592059;178592058;178592057 | chr2:179456786;179456785;179456784 |
| Novex-1 | 11009 | 33250;33251;33252 | chr2:178592059;178592058;178592057 | chr2:179456786;179456785;179456784 |
| Novex-2 | 11076 | 33451;33452;33453 | chr2:178592059;178592058;178592057 | chr2:179456786;179456785;179456784 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | N | 0.693 | 0.507 | 0.563321428455 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -2.245 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| F/C | 0.9891 | likely_pathogenic | 0.9911 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.549112766 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.401 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.172 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| F/G | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -2.671 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| F/H | 0.9945 | likely_pathogenic | 0.9966 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/I | 0.9399 | likely_pathogenic | 0.9508 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.49794619 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -2.196 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/L | 0.9908 | likely_pathogenic | 0.991 | pathogenic | -0.84 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | N | 0.495428203 | None | None | N |
| F/M | 0.9806 | likely_pathogenic | 0.9802 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/N | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -2.959 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/Q | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.702 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/R | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/S | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -3.274 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.549112766 | None | None | N |
| F/T | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -2.921 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| F/V | 0.9599 | likely_pathogenic | 0.9657 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.488218819 | None | None | N |
| F/W | 0.9046 | likely_pathogenic | 0.9288 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/Y | 0.6935 | likely_pathogenic | 0.7825 | pathogenic | -0.821 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.503243017 | 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.