Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23006 | 69241;69242;69243 | chr2:178577319;178577318;178577317 | chr2:179442046;179442045;179442044 |
| N2AB | 21365 | 64318;64319;64320 | chr2:178577319;178577318;178577317 | chr2:179442046;179442045;179442044 |
| N2A | 20438 | 61537;61538;61539 | chr2:178577319;178577318;178577317 | chr2:179442046;179442045;179442044 |
| N2B | 13941 | 42046;42047;42048 | chr2:178577319;178577318;178577317 | chr2:179442046;179442045;179442044 |
| Novex-1 | 14066 | 42421;42422;42423 | chr2:178577319;178577318;178577317 | chr2:179442046;179442045;179442044 |
| Novex-2 | 14133 | 42622;42623;42624 | chr2:178577319;178577318;178577317 | chr2:179442046;179442045;179442044 |
| 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 | rs763118646  |
-1.267 | None | N | 0.199 | 0.136 | 0.0482279557977 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/A | rs763118646 |
-1.267 | None | N | 0.199 | 0.136 | 0.0482279557977 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85971E-06 | 0 | 0 |
| T/I | rs1559470479 |
None | 0.029 | N | 0.584 | 0.11 | 0.209622950755 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1559470479 |
None | 0.029 | N | 0.584 | 0.11 | 0.209622950755 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85976E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0897 | likely_benign | 0.0779 | benign | -1.075 | Destabilizing | None | N | 0.199 | neutral | N | 0.505894373 | None | None | N |
| T/C | 0.3169 | likely_benign | 0.2686 | benign | -1.027 | Destabilizing | 0.356 | N | 0.591 | neutral | None | None | None | None | N |
| T/D | 0.4642 | ambiguous | 0.399 | ambiguous | -1.63 | Destabilizing | 0.031 | N | 0.541 | neutral | None | None | None | None | N |
| T/E | 0.3172 | likely_benign | 0.2612 | benign | -1.499 | Destabilizing | 0.016 | N | 0.531 | neutral | None | None | None | None | N |
| T/F | 0.2199 | likely_benign | 0.1721 | benign | -0.765 | Destabilizing | 0.214 | N | 0.623 | neutral | None | None | None | None | N |
| T/G | 0.2914 | likely_benign | 0.2356 | benign | -1.435 | Destabilizing | None | N | 0.419 | neutral | None | None | None | None | N |
| T/H | 0.2095 | likely_benign | 0.1882 | benign | -1.603 | Destabilizing | None | N | 0.499 | neutral | None | None | None | None | N |
| T/I | 0.1381 | likely_benign | 0.111 | benign | -0.16 | Destabilizing | 0.029 | N | 0.584 | neutral | N | 0.456081628 | None | None | N |
| T/K | 0.2593 | likely_benign | 0.2257 | benign | -0.912 | Destabilizing | 0.016 | N | 0.53 | neutral | None | None | None | None | N |
| T/L | 0.0932 | likely_benign | 0.0852 | benign | -0.16 | Destabilizing | 0.006 | N | 0.486 | neutral | None | None | None | None | N |
| T/M | 0.0881 | likely_benign | 0.0821 | benign | -0.12 | Destabilizing | 0.002 | N | 0.473 | neutral | None | None | None | None | N |
| T/N | 0.1273 | likely_benign | 0.1129 | benign | -1.371 | Destabilizing | 0.012 | N | 0.472 | neutral | N | 0.511436265 | None | None | N |
| T/P | 0.6535 | likely_pathogenic | 0.6359 | pathogenic | -0.433 | Destabilizing | 0.055 | N | 0.593 | neutral | N | 0.515058574 | None | None | N |
| T/Q | 0.2157 | likely_benign | 0.193 | benign | -1.338 | Destabilizing | 0.072 | N | 0.598 | neutral | None | None | None | None | N |
| T/R | 0.199 | likely_benign | 0.1816 | benign | -0.885 | Destabilizing | 0.072 | N | 0.597 | neutral | None | None | None | None | N |
| T/S | 0.1044 | likely_benign | 0.0929 | benign | -1.537 | Destabilizing | None | N | 0.236 | neutral | N | 0.439901454 | None | None | N |
| T/V | 0.123 | likely_benign | 0.0992 | benign | -0.433 | Destabilizing | 0.016 | N | 0.464 | neutral | None | None | None | None | N |
| T/W | 0.5614 | ambiguous | 0.4836 | ambiguous | -0.858 | Destabilizing | 0.864 | D | 0.598 | neutral | None | None | None | None | N |
| T/Y | 0.2375 | likely_benign | 0.1866 | benign | -0.532 | Destabilizing | 0.214 | N | 0.623 | neutral | 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.