Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14830 | 44713;44714;44715 | chr2:178625333;178625332;178625331 | chr2:179490060;179490059;179490058 |
| N2AB | 13189 | 39790;39791;39792 | chr2:178625333;178625332;178625331 | chr2:179490060;179490059;179490058 |
| N2A | 12262 | 37009;37010;37011 | chr2:178625333;178625332;178625331 | chr2:179490060;179490059;179490058 |
| N2B | 5765 | 17518;17519;17520 | chr2:178625333;178625332;178625331 | chr2:179490060;179490059;179490058 |
| Novex-1 | 5890 | 17893;17894;17895 | chr2:178625333;178625332;178625331 | chr2:179490060;179490059;179490058 |
| Novex-2 | 5957 | 18094;18095;18096 | chr2:178625333;178625332;178625331 | chr2:179490060;179490059;179490058 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1355448697  |
-0.079 | 0.999 | N | 0.669 | 0.302 | 0.513674172182 | gnomAD-2.1.1 | 8.34E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.82E-05 | 0 |
| A/T | rs1355448697 |
-0.079 | 0.999 | N | 0.669 | 0.302 | 0.513674172182 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs1355448697 |
-0.079 | 0.999 | N | 0.669 | 0.302 | 0.513674172182 | gnomAD-4.0.0 | 7.78756E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.45066E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.782 | likely_pathogenic | 0.7306 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| A/D | 0.5964 | likely_pathogenic | 0.5399 | ambiguous | -0.169 | Destabilizing | 0.999 | D | 0.787 | deleterious | D | 0.621571881 | None | None | N |
| A/E | 0.4242 | ambiguous | 0.395 | ambiguous | -0.296 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/F | 0.7312 | likely_pathogenic | 0.7024 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/G | 0.2293 | likely_benign | 0.2009 | benign | -0.342 | Destabilizing | 0.434 | N | 0.323 | neutral | N | 0.513375193 | None | None | N |
| A/H | 0.7437 | likely_pathogenic | 0.6983 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/I | 0.6202 | likely_pathogenic | 0.5938 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/K | 0.6006 | likely_pathogenic | 0.5519 | ambiguous | -0.635 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/L | 0.5448 | ambiguous | 0.5273 | ambiguous | -0.188 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/M | 0.5082 | ambiguous | 0.472 | ambiguous | -0.321 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| A/N | 0.5265 | ambiguous | 0.4707 | ambiguous | -0.323 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/P | 0.9281 | likely_pathogenic | 0.8983 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.64735975 | None | None | N |
| A/Q | 0.4679 | ambiguous | 0.4357 | ambiguous | -0.531 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/R | 0.4986 | ambiguous | 0.4549 | ambiguous | -0.245 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/S | 0.1262 | likely_benign | 0.11 | benign | -0.597 | Destabilizing | 0.996 | D | 0.479 | neutral | N | 0.491074566 | None | None | N |
| A/T | 0.1778 | likely_benign | 0.1525 | benign | -0.631 | Destabilizing | 0.999 | D | 0.669 | neutral | N | 0.513906755 | None | None | N |
| A/V | 0.3626 | ambiguous | 0.3364 | benign | -0.172 | Destabilizing | 0.999 | D | 0.633 | neutral | D | 0.556793805 | None | None | N |
| A/W | 0.9576 | likely_pathogenic | 0.9437 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/Y | 0.8249 | likely_pathogenic | 0.7983 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.794 | 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.