Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29122 | 87589;87590;87591 | chr2:178557990;178557989;178557988 | chr2:179422717;179422716;179422715 |
| N2AB | 27481 | 82666;82667;82668 | chr2:178557990;178557989;178557988 | chr2:179422717;179422716;179422715 |
| N2A | 26554 | 79885;79886;79887 | chr2:178557990;178557989;178557988 | chr2:179422717;179422716;179422715 |
| N2B | 20057 | 60394;60395;60396 | chr2:178557990;178557989;178557988 | chr2:179422717;179422716;179422715 |
| Novex-1 | 20182 | 60769;60770;60771 | chr2:178557990;178557989;178557988 | chr2:179422717;179422716;179422715 |
| Novex-2 | 20249 | 60970;60971;60972 | chr2:178557990;178557989;178557988 | chr2:179422717;179422716;179422715 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | None | None | 0.928 | N | 0.379 | 0.484 | 0.345175991111 | gnomAD-4.0.0 | 6.84266E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99413E-07 | 0 | 0 |
| S/T | rs1231787901  |
0.127 | 0.645 | N | 0.354 | 0.15 | 0.244539031024 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/T | rs1231787901 |
0.127 | 0.645 | N | 0.354 | 0.15 | 0.244539031024 | gnomAD-4.0.0 | 6.84266E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99413E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0652 | likely_benign | 0.0611 | benign | -0.228 | Destabilizing | 0.006 | N | 0.261 | neutral | N | 0.508145244 | None | None | I |
| S/C | 0.1052 | likely_benign | 0.1054 | benign | -0.341 | Destabilizing | 0.98 | D | 0.413 | neutral | N | 0.490308501 | None | None | I |
| S/D | 0.4327 | ambiguous | 0.3834 | ambiguous | -0.118 | Destabilizing | 0.83 | D | 0.365 | neutral | None | None | None | None | I |
| S/E | 0.5207 | ambiguous | 0.4701 | ambiguous | -0.231 | Destabilizing | 0.707 | D | 0.366 | neutral | None | None | None | None | I |
| S/F | 0.1746 | likely_benign | 0.1673 | benign | -1.009 | Destabilizing | 0.928 | D | 0.451 | neutral | N | 0.490055012 | None | None | I |
| S/G | 0.0886 | likely_benign | 0.086 | benign | -0.24 | Destabilizing | 0.547 | D | 0.364 | neutral | None | None | None | None | I |
| S/H | 0.3218 | likely_benign | 0.2964 | benign | -0.594 | Destabilizing | 0.995 | D | 0.395 | neutral | None | None | None | None | I |
| S/I | 0.1022 | likely_benign | 0.1021 | benign | -0.321 | Destabilizing | 0.894 | D | 0.441 | neutral | None | None | None | None | I |
| S/K | 0.5897 | likely_pathogenic | 0.5487 | ambiguous | -0.366 | Destabilizing | 0.707 | D | 0.367 | neutral | None | None | None | None | I |
| S/L | 0.0804 | likely_benign | 0.0778 | benign | -0.321 | Destabilizing | 0.547 | D | 0.349 | neutral | None | None | None | None | I |
| S/M | 0.1716 | likely_benign | 0.1549 | benign | -0.177 | Destabilizing | 0.985 | D | 0.389 | neutral | None | None | None | None | I |
| S/N | 0.1317 | likely_benign | 0.1246 | benign | -0.112 | Destabilizing | 0.945 | D | 0.39 | neutral | None | None | None | None | I |
| S/P | 0.1897 | likely_benign | 0.1465 | benign | -0.27 | Destabilizing | 0.928 | D | 0.379 | neutral | N | 0.488098046 | None | None | I |
| S/Q | 0.4427 | ambiguous | 0.404 | ambiguous | -0.349 | Destabilizing | 0.945 | D | 0.387 | neutral | None | None | None | None | I |
| S/R | 0.5138 | ambiguous | 0.4897 | ambiguous | -0.147 | Destabilizing | 0.894 | D | 0.381 | neutral | None | None | None | None | I |
| S/T | 0.0671 | likely_benign | 0.0639 | benign | -0.234 | Destabilizing | 0.645 | D | 0.354 | neutral | N | 0.501661989 | None | None | I |
| S/V | 0.1119 | likely_benign | 0.1044 | benign | -0.27 | Destabilizing | 0.809 | D | 0.347 | neutral | None | None | None | None | I |
| S/W | 0.3747 | ambiguous | 0.3688 | ambiguous | -1.094 | Destabilizing | 0.995 | D | 0.654 | neutral | None | None | None | None | I |
| S/Y | 0.1869 | likely_benign | 0.1853 | benign | -0.786 | Destabilizing | 0.975 | D | 0.463 | neutral | N | 0.501157827 | 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.