Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32297 | 97114;97115;97116 | chr2:178543084;178543083;178543082 | chr2:179407811;179407810;179407809 |
| N2AB | 30656 | 92191;92192;92193 | chr2:178543084;178543083;178543082 | chr2:179407811;179407810;179407809 |
| N2A | 29729 | 89410;89411;89412 | chr2:178543084;178543083;178543082 | chr2:179407811;179407810;179407809 |
| N2B | 23232 | 69919;69920;69921 | chr2:178543084;178543083;178543082 | chr2:179407811;179407810;179407809 |
| Novex-1 | 23357 | 70294;70295;70296 | chr2:178543084;178543083;178543082 | chr2:179407811;179407810;179407809 |
| Novex-2 | 23424 | 70495;70496;70497 | chr2:178543084;178543083;178543082 | chr2:179407811;179407810;179407809 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.877 | N | 0.49 | 0.238 | 0.506972231042 | gnomAD-4.0.0 | 1.6489E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.48205E-05 | 0 |
| V/I | rs1161985671  |
-1.242 | 0.022 | N | 0.222 | 0.033 | 0.401753679984 | gnomAD-2.1.1 | 3.25E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.61E-05 | 0 |
| V/I | rs1161985671 |
-1.242 | 0.022 | N | 0.222 | 0.033 | 0.401753679984 | gnomAD-3.1.2 | 6.67E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.48E-05 | 0 | 0 |
| V/I | rs1161985671 |
-1.242 | 0.022 | N | 0.222 | 0.033 | 0.401753679984 | gnomAD-4.0.0 | 1.88964E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.57733E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4378 | ambiguous | 0.4708 | ambiguous | -2.328 | Highly Destabilizing | 0.877 | D | 0.49 | neutral | N | 0.417965091 | None | None | N |
| V/C | 0.8965 | likely_pathogenic | 0.8952 | pathogenic | -2.409 | Highly Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| V/D | 0.9911 | likely_pathogenic | 0.993 | pathogenic | -3.308 | Highly Destabilizing | 0.995 | D | 0.805 | deleterious | None | None | None | None | N |
| V/E | 0.9789 | likely_pathogenic | 0.9822 | pathogenic | -3.085 | Highly Destabilizing | 0.994 | D | 0.786 | deleterious | N | 0.472717775 | None | None | N |
| V/F | 0.8402 | likely_pathogenic | 0.8409 | pathogenic | -1.318 | Destabilizing | 0.971 | D | 0.746 | deleterious | None | None | None | None | N |
| V/G | 0.7934 | likely_pathogenic | 0.8357 | pathogenic | -2.809 | Highly Destabilizing | 0.994 | D | 0.825 | deleterious | N | 0.461868449 | None | None | N |
| V/H | 0.994 | likely_pathogenic | 0.994 | pathogenic | -2.362 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| V/I | 0.1154 | likely_benign | 0.0999 | benign | -0.967 | Destabilizing | 0.022 | N | 0.222 | neutral | N | 0.41386878 | None | None | N |
| V/K | 0.9839 | likely_pathogenic | 0.986 | pathogenic | -1.827 | Destabilizing | 0.985 | D | 0.785 | deleterious | None | None | None | None | N |
| V/L | 0.6101 | likely_pathogenic | 0.5875 | pathogenic | -0.967 | Destabilizing | 0.595 | D | 0.463 | neutral | N | 0.508853667 | None | None | N |
| V/M | 0.6475 | likely_pathogenic | 0.6258 | pathogenic | -1.503 | Destabilizing | 0.971 | D | 0.643 | neutral | None | None | None | None | N |
| V/N | 0.9566 | likely_pathogenic | 0.9648 | pathogenic | -2.303 | Highly Destabilizing | 0.995 | D | 0.799 | deleterious | None | None | None | None | N |
| V/P | 0.849 | likely_pathogenic | 0.8681 | pathogenic | -1.399 | Destabilizing | 0.995 | D | 0.771 | deleterious | None | None | None | None | N |
| V/Q | 0.9756 | likely_pathogenic | 0.9777 | pathogenic | -2.151 | Highly Destabilizing | 0.995 | D | 0.783 | deleterious | None | None | None | None | N |
| V/R | 0.9589 | likely_pathogenic | 0.9671 | pathogenic | -1.667 | Destabilizing | 0.995 | D | 0.797 | deleterious | None | None | None | None | N |
| V/S | 0.7668 | likely_pathogenic | 0.8053 | pathogenic | -2.828 | Highly Destabilizing | 0.985 | D | 0.783 | deleterious | None | None | None | None | N |
| V/T | 0.6251 | likely_pathogenic | 0.6849 | pathogenic | -2.471 | Highly Destabilizing | 0.904 | D | 0.633 | neutral | None | None | None | None | N |
| V/W | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -1.734 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | None | N |
| V/Y | 0.9875 | likely_pathogenic | 0.9875 | pathogenic | -1.464 | Destabilizing | 0.995 | D | 0.737 | 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.