Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16224 | 48895;48896;48897 | chr2:178614937;178614936;178614935 | chr2:179479664;179479663;179479662 |
| N2AB | 14583 | 43972;43973;43974 | chr2:178614937;178614936;178614935 | chr2:179479664;179479663;179479662 |
| N2A | 13656 | 41191;41192;41193 | chr2:178614937;178614936;178614935 | chr2:179479664;179479663;179479662 |
| N2B | 7159 | 21700;21701;21702 | chr2:178614937;178614936;178614935 | chr2:179479664;179479663;179479662 |
| Novex-1 | 7284 | 22075;22076;22077 | chr2:178614937;178614936;178614935 | chr2:179479664;179479663;179479662 |
| Novex-2 | 7351 | 22276;22277;22278 | chr2:178614937;178614936;178614935 | chr2:179479664;179479663;179479662 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs148549746  |
-0.819 | 1.0 | N | 0.812 | 0.521 | 0.578586219528 | gnomAD-2.1.1 | 4.69E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.22E-05 | 8.67E-05 | 1.50286E-04 |
| W/R | rs148549746 |
-0.819 | 1.0 | N | 0.812 | 0.521 | 0.578586219528 | gnomAD-3.1.2 | 5.27E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 8.83E-05 | 0 | 0 |
| W/R | rs148549746 |
-0.819 | 1.0 | N | 0.812 | 0.521 | 0.578586219528 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| W/R | rs148549746 |
-0.819 | 1.0 | N | 0.812 | 0.521 | 0.578586219528 | gnomAD-4.0.0 | 6.70232E-05 | None | None | None | None | N | None | 1.33758E-05 | 0 | None | 0 | 0 | None | 9.51807E-05 | 0 | 8.20081E-05 | 0 | 6.46831E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.7657 | likely_pathogenic | 0.7864 | pathogenic | -2.53 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| W/C | 0.8952 | likely_pathogenic | 0.9103 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.480168408 | None | None | N |
| W/D | 0.8869 | likely_pathogenic | 0.9068 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/E | 0.9041 | likely_pathogenic | 0.9089 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/F | 0.3734 | ambiguous | 0.4236 | ambiguous | -1.463 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/G | 0.662 | likely_pathogenic | 0.6808 | pathogenic | -2.723 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.479007015 | None | None | N |
| W/H | 0.8635 | likely_pathogenic | 0.883 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/I | 0.8008 | likely_pathogenic | 0.8317 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/K | 0.9637 | likely_pathogenic | 0.9616 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/L | 0.6628 | likely_pathogenic | 0.6828 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.469009987 | None | None | N |
| W/M | 0.7658 | likely_pathogenic | 0.8035 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/N | 0.8418 | likely_pathogenic | 0.865 | pathogenic | -1.528 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| W/P | 0.9222 | likely_pathogenic | 0.9145 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| W/Q | 0.9456 | likely_pathogenic | 0.9472 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| W/R | 0.9555 | likely_pathogenic | 0.9421 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.455387469 | None | None | N |
| W/S | 0.6658 | likely_pathogenic | 0.694 | pathogenic | -1.959 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.405166903 | None | None | N |
| W/T | 0.7186 | likely_pathogenic | 0.7511 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/V | 0.7301 | likely_pathogenic | 0.7613 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| W/Y | 0.4877 | ambiguous | 0.5322 | ambiguous | -1.335 | Destabilizing | 1.0 | D | 0.621 | neutral | 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.