Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35708 | 107347;107348;107349 | chr2:178528629;178528628;178528627 | chr2:179393356;179393355;179393354 |
| N2AB | 34067 | 102424;102425;102426 | chr2:178528629;178528628;178528627 | chr2:179393356;179393355;179393354 |
| N2A | 33140 | 99643;99644;99645 | chr2:178528629;178528628;178528627 | chr2:179393356;179393355;179393354 |
| N2B | 26643 | 80152;80153;80154 | chr2:178528629;178528628;178528627 | chr2:179393356;179393355;179393354 |
| Novex-1 | 26768 | 80527;80528;80529 | chr2:178528629;178528628;178528627 | chr2:179393356;179393355;179393354 |
| Novex-2 | 26835 | 80728;80729;80730 | chr2:178528629;178528628;178528627 | chr2:179393356;179393355;179393354 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs71423567  |
-0.113 | 1.0 | N | 0.893 | 0.427 | 0.461583377977 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66889E-04 |
| P/L | rs71423567 |
-0.113 | 1.0 | N | 0.893 | 0.427 | 0.461583377977 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| P/L | rs71423567 |
-0.113 | 1.0 | N | 0.893 | 0.427 | 0.461583377977 | gnomAD-4.0.0 | 4.96083E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22886E-05 | None | 0 | 0 | 0 | 0 | 1.12126E-04 |
| P/R | rs71423567 |
-0.586 | 1.0 | N | 0.905 | 0.68 | 0.506373324096 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.41026E-04 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs71423567 |
-0.586 | 1.0 | N | 0.905 | 0.68 | 0.506373324096 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs71423567 |
-0.586 | 1.0 | N | 0.905 | 0.68 | 0.506373324096 | gnomAD-4.0.0 | 6.57194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.659 | likely_pathogenic | 0.6842 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.495057857 | None | None | N |
| P/C | 0.9798 | likely_pathogenic | 0.9799 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| P/D | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/E | 0.9861 | likely_pathogenic | 0.9897 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/F | 0.9845 | likely_pathogenic | 0.9866 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/G | 0.9713 | likely_pathogenic | 0.9716 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/H | 0.9823 | likely_pathogenic | 0.9862 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.50768161 | None | None | N |
| P/I | 0.834 | likely_pathogenic | 0.8574 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/K | 0.9906 | likely_pathogenic | 0.9932 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/L | 0.5891 | likely_pathogenic | 0.6377 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.495302793 | None | None | N |
| P/M | 0.9065 | likely_pathogenic | 0.9118 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/N | 0.9915 | likely_pathogenic | 0.9929 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/Q | 0.9646 | likely_pathogenic | 0.9733 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/R | 0.9795 | likely_pathogenic | 0.9849 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.905 | deleterious | N | 0.513922581 | None | None | N |
| P/S | 0.9516 | likely_pathogenic | 0.9566 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.477207092 | None | None | N |
| P/T | 0.8798 | likely_pathogenic | 0.8948 | pathogenic | -1.705 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.495311347 | None | None | N |
| P/V | 0.7682 | likely_pathogenic | 0.7875 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/W | 0.9976 | likely_pathogenic | 0.998 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/Y | 0.9927 | likely_pathogenic | 0.9942 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.896 | 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.