Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29284 | 88075;88076;88077 | chr2:178557412;178557411;178557410 | chr2:179422139;179422138;179422137 |
| N2AB | 27643 | 83152;83153;83154 | chr2:178557412;178557411;178557410 | chr2:179422139;179422138;179422137 |
| N2A | 26716 | 80371;80372;80373 | chr2:178557412;178557411;178557410 | chr2:179422139;179422138;179422137 |
| N2B | 20219 | 60880;60881;60882 | chr2:178557412;178557411;178557410 | chr2:179422139;179422138;179422137 |
| Novex-1 | 20344 | 61255;61256;61257 | chr2:178557412;178557411;178557410 | chr2:179422139;179422138;179422137 |
| Novex-2 | 20411 | 61456;61457;61458 | chr2:178557412;178557411;178557410 | chr2:179422139;179422138;179422137 |
| 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 | rs771918759  |
-1.18 | 1.0 | D | 0.725 | 0.628 | 0.716492818265 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs771918759 |
-1.18 | 1.0 | D | 0.725 | 0.628 | 0.716492818265 | gnomAD-4.0.0 | 3.18199E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 3.02352E-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 | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -3.154 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| W/C | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.518907147 | None | None | I |
| W/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| W/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| W/F | 0.7923 | likely_pathogenic | 0.7657 | pathogenic | -1.981 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | I |
| W/G | 0.9897 | likely_pathogenic | 0.9903 | pathogenic | -3.352 | Highly Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.533288419 | None | None | I |
| W/H | 0.994 | likely_pathogenic | 0.9938 | pathogenic | -1.648 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| W/I | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| W/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| W/L | 0.9808 | likely_pathogenic | 0.9809 | pathogenic | -2.429 | Highly Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.531260503 | None | None | I |
| W/M | 0.9972 | likely_pathogenic | 0.9972 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| W/N | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| W/P | 0.9966 | likely_pathogenic | 0.9972 | pathogenic | -2.689 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| W/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| W/R | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.533034929 | None | None | I |
| W/S | 0.9946 | likely_pathogenic | 0.9949 | pathogenic | -2.487 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.51738621 | None | None | I |
| W/T | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| W/V | 0.9964 | likely_pathogenic | 0.9966 | pathogenic | -2.689 | Highly Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| W/Y | 0.9216 | likely_pathogenic | 0.9148 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | I |
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.