Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29126 | 87601;87602;87603 | chr2:178557978;178557977;178557976 | chr2:179422705;179422704;179422703 |
| N2AB | 27485 | 82678;82679;82680 | chr2:178557978;178557977;178557976 | chr2:179422705;179422704;179422703 |
| N2A | 26558 | 79897;79898;79899 | chr2:178557978;178557977;178557976 | chr2:179422705;179422704;179422703 |
| N2B | 20061 | 60406;60407;60408 | chr2:178557978;178557977;178557976 | chr2:179422705;179422704;179422703 |
| Novex-1 | 20186 | 60781;60782;60783 | chr2:178557978;178557977;178557976 | chr2:179422705;179422704;179422703 |
| Novex-2 | 20253 | 60982;60983;60984 | chr2:178557978;178557977;178557976 | chr2:179422705;179422704;179422703 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs773581788  |
-1.193 | 0.121 | N | 0.301 | 0.095 | 0.144782658237 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs773581788 |
-1.193 | 0.121 | N | 0.301 | 0.095 | 0.144782658237 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51915E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs559269036 |
-0.053 | 0.994 | N | 0.673 | 0.403 | 0.488757021912 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs559269036 |
-0.053 | 0.994 | N | 0.673 | 0.403 | 0.488757021912 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30941E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs559269036 |
-0.053 | 0.994 | N | 0.673 | 0.403 | 0.488757021912 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/I | rs559269036 |
-0.053 | 0.994 | N | 0.673 | 0.403 | 0.488757021912 | gnomAD-4.0.0 | 3.84422E-06 | None | None | None | None | N | None | 0 | 3.38788E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.34034E-05 | 0 |
| T/S | rs559269036 |
None | 0.63 | N | 0.373 | 0.149 | 0.304435445954 | gnomAD-4.0.0 | 6.84347E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99415E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0612 | likely_benign | 0.0579 | benign | -0.308 | Destabilizing | 0.121 | N | 0.301 | neutral | N | 0.43344991 | None | None | N |
| T/C | 0.3598 | ambiguous | 0.3012 | benign | -0.197 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| T/D | 0.4069 | ambiguous | 0.3605 | ambiguous | 0.032 | Stabilizing | 0.995 | D | 0.635 | neutral | None | None | None | None | N |
| T/E | 0.2902 | likely_benign | 0.2681 | benign | -0.057 | Destabilizing | 0.995 | D | 0.637 | neutral | None | None | None | None | N |
| T/F | 0.3583 | ambiguous | 0.3038 | benign | -0.849 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| T/G | 0.2197 | likely_benign | 0.1836 | benign | -0.417 | Destabilizing | 0.967 | D | 0.629 | neutral | None | None | None | None | N |
| T/H | 0.3084 | likely_benign | 0.2671 | benign | -0.737 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| T/I | 0.2044 | likely_benign | 0.179 | benign | -0.142 | Destabilizing | 0.994 | D | 0.673 | neutral | N | 0.475992753 | None | None | N |
| T/K | 0.1991 | likely_benign | 0.1827 | benign | -0.35 | Destabilizing | 0.995 | D | 0.646 | neutral | None | None | None | None | N |
| T/L | 0.1383 | likely_benign | 0.1253 | benign | -0.142 | Destabilizing | 0.983 | D | 0.594 | neutral | None | None | None | None | N |
| T/M | 0.1164 | likely_benign | 0.1082 | benign | 0.069 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| T/N | 0.1617 | likely_benign | 0.1487 | benign | -0.087 | Destabilizing | 0.994 | D | 0.615 | neutral | N | 0.505102152 | None | None | N |
| T/P | 0.6685 | likely_pathogenic | 0.6795 | pathogenic | -0.17 | Destabilizing | 0.997 | D | 0.679 | prob.neutral | D | 0.524381346 | None | None | N |
| T/Q | 0.2117 | likely_benign | 0.2005 | benign | -0.355 | Destabilizing | 0.998 | D | 0.686 | prob.neutral | None | None | None | None | N |
| T/R | 0.1654 | likely_benign | 0.1575 | benign | -0.059 | Destabilizing | 0.998 | D | 0.692 | prob.neutral | None | None | None | None | N |
| T/S | 0.1026 | likely_benign | 0.0928 | benign | -0.27 | Destabilizing | 0.63 | D | 0.373 | neutral | N | 0.448382077 | None | None | N |
| T/V | 0.1251 | likely_benign | 0.1127 | benign | -0.17 | Destabilizing | 0.983 | D | 0.541 | neutral | None | None | None | None | N |
| T/W | 0.7427 | likely_pathogenic | 0.6958 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/Y | 0.4146 | ambiguous | 0.3586 | ambiguous | -0.577 | Destabilizing | 0.999 | D | 0.74 | 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.