Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29314 | 88165;88166;88167 | chr2:178557322;178557321;178557320 | chr2:179422049;179422048;179422047 |
| N2AB | 27673 | 83242;83243;83244 | chr2:178557322;178557321;178557320 | chr2:179422049;179422048;179422047 |
| N2A | 26746 | 80461;80462;80463 | chr2:178557322;178557321;178557320 | chr2:179422049;179422048;179422047 |
| N2B | 20249 | 60970;60971;60972 | chr2:178557322;178557321;178557320 | chr2:179422049;179422048;179422047 |
| Novex-1 | 20374 | 61345;61346;61347 | chr2:178557322;178557321;178557320 | chr2:179422049;179422048;179422047 |
| Novex-2 | 20441 | 61546;61547;61548 | chr2:178557322;178557321;178557320 | chr2:179422049;179422048;179422047 |
| 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/E | None | None | 1.0 | D | 0.819 | 0.704 | 0.822100390886 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85773E-06 | 0 | 0 |
| A/T | rs923029692  |
-1.911 | 1.0 | D | 0.776 | 0.743 | 0.730109315621 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/T | rs923029692 |
-1.911 | 1.0 | D | 0.776 | 0.743 | 0.730109315621 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs923029692 |
-1.911 | 1.0 | D | 0.776 | 0.743 | 0.730109315621 | gnomAD-4.0.0 | 7.6851E-06 | None | None | None | None | N | None | 3.38135E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.56988E-06 | 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 | 0.8466 | likely_pathogenic | 0.8855 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/D | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -2.87 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/E | 0.9962 | likely_pathogenic | 0.997 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.64991236 | None | None | N |
| A/F | 0.9963 | likely_pathogenic | 0.9967 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/G | 0.5424 | ambiguous | 0.6063 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.606942258 | None | None | N |
| A/H | 0.9978 | likely_pathogenic | 0.9986 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/I | 0.9866 | likely_pathogenic | 0.9842 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/K | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/L | 0.9546 | likely_pathogenic | 0.9522 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/M | 0.9775 | likely_pathogenic | 0.9786 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/N | 0.9952 | likely_pathogenic | 0.9971 | pathogenic | -1.891 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/P | 0.9854 | likely_pathogenic | 0.9878 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.633489391 | None | None | N |
| A/Q | 0.9889 | likely_pathogenic | 0.9923 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/R | 0.9933 | likely_pathogenic | 0.9949 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/S | 0.3711 | ambiguous | 0.4603 | ambiguous | -2.226 | Highly Destabilizing | 1.0 | D | 0.616 | neutral | D | 0.597050259 | None | None | N |
| A/T | 0.8137 | likely_pathogenic | 0.8401 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.633085782 | None | None | N |
| A/V | 0.9075 | likely_pathogenic | 0.9053 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | D | 0.64849973 | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/Y | 0.9983 | likely_pathogenic | 0.9988 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.853 | 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.