Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29332 | 88219;88220;88221 | chr2:178557268;178557267;178557266 | chr2:179421995;179421994;179421993 |
| N2AB | 27691 | 83296;83297;83298 | chr2:178557268;178557267;178557266 | chr2:179421995;179421994;179421993 |
| N2A | 26764 | 80515;80516;80517 | chr2:178557268;178557267;178557266 | chr2:179421995;179421994;179421993 |
| N2B | 20267 | 61024;61025;61026 | chr2:178557268;178557267;178557266 | chr2:179421995;179421994;179421993 |
| Novex-1 | 20392 | 61399;61400;61401 | chr2:178557268;178557267;178557266 | chr2:179421995;179421994;179421993 |
| Novex-2 | 20459 | 61600;61601;61602 | chr2:178557268;178557267;178557266 | chr2:179421995;179421994;179421993 |
| 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/V | None | None | 0.999 | N | 0.661 | 0.313 | 0.374613414588 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8342 | likely_pathogenic | 0.8229 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/D | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| A/E | 0.995 | likely_pathogenic | 0.9958 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.478680987 | None | None | N |
| A/F | 0.9771 | likely_pathogenic | 0.9815 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/G | 0.6199 | likely_pathogenic | 0.6304 | pathogenic | -1.585 | Destabilizing | 0.999 | D | 0.556 | neutral | N | 0.463285757 | None | None | N |
| A/H | 0.9954 | likely_pathogenic | 0.9964 | pathogenic | -1.898 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/I | 0.9411 | likely_pathogenic | 0.9405 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/K | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/L | 0.7897 | likely_pathogenic | 0.803 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/M | 0.9232 | likely_pathogenic | 0.9279 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/N | 0.9878 | likely_pathogenic | 0.9898 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/P | 0.9356 | likely_pathogenic | 0.9423 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.512387044 | None | None | N |
| A/Q | 0.9863 | likely_pathogenic | 0.9893 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/R | 0.9924 | likely_pathogenic | 0.9941 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/S | 0.4806 | ambiguous | 0.4939 | ambiguous | -1.734 | Destabilizing | 0.999 | D | 0.59 | neutral | N | 0.469464275 | None | None | N |
| A/T | 0.8112 | likely_pathogenic | 0.802 | pathogenic | -1.381 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.488299463 | None | None | N |
| A/V | 0.7757 | likely_pathogenic | 0.7543 | pathogenic | -0.212 | Destabilizing | 0.999 | D | 0.661 | prob.neutral | N | 0.472500504 | None | None | N |
| A/W | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/Y | 0.9922 | likely_pathogenic | 0.9941 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.85 | 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.