Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7469 | 22630;22631;22632 | chr2:178722382;178722381;178722380 | chr2:179587109;179587108;179587107 |
| N2AB | 7152 | 21679;21680;21681 | chr2:178722382;178722381;178722380 | chr2:179587109;179587108;179587107 |
| N2A | 6225 | 18898;18899;18900 | chr2:178722382;178722381;178722380 | chr2:179587109;179587108;179587107 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1299411121  |
-0.926 | 0.933 | N | 0.63 | 0.259 | 0.456647468687 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/L | rs1299411121 |
-0.926 | 0.933 | N | 0.63 | 0.259 | 0.456647468687 | gnomAD-4.0.0 | 2.05308E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99619E-07 | 2.31922E-05 | 0 |
| F/S | rs575403603 |
-1.237 | 0.998 | N | 0.786 | 0.43 | 0.770576610363 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/S | rs575403603 |
-1.237 | 0.998 | N | 0.786 | 0.43 | 0.770576610363 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| F/S | rs575403603 |
-1.237 | 0.998 | N | 0.786 | 0.43 | 0.770576610363 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| F/S | rs575403603 |
-1.237 | 0.998 | N | 0.786 | 0.43 | 0.770576610363 | gnomAD-4.0.0 | 2.56313E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.68111E-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 | 0.8847 | likely_pathogenic | 0.8726 | pathogenic | -1.892 | Destabilizing | 0.989 | D | 0.727 | prob.delet. | None | None | None | None | N |
| F/C | 0.7813 | likely_pathogenic | 0.7939 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.489415766 | None | None | N |
| F/D | 0.9713 | likely_pathogenic | 0.9673 | pathogenic | -0.162 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| F/E | 0.9728 | likely_pathogenic | 0.9638 | pathogenic | -0.098 | Destabilizing | 0.995 | D | 0.802 | deleterious | None | None | None | None | N |
| F/G | 0.9669 | likely_pathogenic | 0.9703 | pathogenic | -2.203 | Highly Destabilizing | 0.998 | D | 0.776 | deleterious | None | None | None | None | N |
| F/H | 0.8349 | likely_pathogenic | 0.8331 | pathogenic | -0.542 | Destabilizing | 0.989 | D | 0.768 | deleterious | None | None | None | None | N |
| F/I | 0.4862 | ambiguous | 0.4464 | ambiguous | -0.987 | Destabilizing | 0.99 | D | 0.726 | prob.delet. | D | 0.53571306 | None | None | N |
| F/K | 0.9758 | likely_pathogenic | 0.97 | pathogenic | -0.95 | Destabilizing | 0.996 | D | 0.803 | deleterious | None | None | None | None | N |
| F/L | 0.9265 | likely_pathogenic | 0.9241 | pathogenic | -0.987 | Destabilizing | 0.933 | D | 0.63 | neutral | N | 0.504832793 | None | None | N |
| F/M | 0.7514 | likely_pathogenic | 0.7155 | pathogenic | -0.774 | Destabilizing | 0.996 | D | 0.74 | deleterious | None | None | None | None | N |
| F/N | 0.9208 | likely_pathogenic | 0.9172 | pathogenic | -0.952 | Destabilizing | 0.998 | D | 0.81 | deleterious | None | None | None | None | N |
| F/P | 0.9972 | likely_pathogenic | 0.9979 | pathogenic | -1.278 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| F/Q | 0.9551 | likely_pathogenic | 0.9437 | pathogenic | -1.006 | Destabilizing | 0.998 | D | 0.808 | deleterious | None | None | None | None | N |
| F/R | 0.9429 | likely_pathogenic | 0.9286 | pathogenic | -0.348 | Destabilizing | 0.996 | D | 0.811 | deleterious | None | None | None | None | N |
| F/S | 0.8013 | likely_pathogenic | 0.7818 | pathogenic | -1.798 | Destabilizing | 0.998 | D | 0.786 | deleterious | N | 0.520474249 | None | None | N |
| F/T | 0.8395 | likely_pathogenic | 0.7908 | pathogenic | -1.639 | Destabilizing | 0.998 | D | 0.79 | deleterious | None | None | None | None | N |
| F/V | 0.452 | ambiguous | 0.406 | ambiguous | -1.278 | Destabilizing | 0.952 | D | 0.719 | prob.delet. | N | 0.511622692 | None | None | N |
| F/W | 0.6541 | likely_pathogenic | 0.7074 | pathogenic | -0.273 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| F/Y | 0.2519 | likely_benign | 0.3017 | benign | -0.437 | Destabilizing | 0.037 | N | 0.341 | neutral | N | 0.479801062 | 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.