Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19071 | 57436;57437;57438 | chr2:178597959;178597958;178597957 | chr2:179462686;179462685;179462684 |
| N2AB | 17430 | 52513;52514;52515 | chr2:178597959;178597958;178597957 | chr2:179462686;179462685;179462684 |
| N2A | 16503 | 49732;49733;49734 | chr2:178597959;178597958;178597957 | chr2:179462686;179462685;179462684 |
| N2B | 10006 | 30241;30242;30243 | chr2:178597959;178597958;178597957 | chr2:179462686;179462685;179462684 |
| Novex-1 | 10131 | 30616;30617;30618 | chr2:178597959;178597958;178597957 | chr2:179462686;179462685;179462684 |
| Novex-2 | 10198 | 30817;30818;30819 | chr2:178597959;178597958;178597957 | chr2:179462686;179462685;179462684 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs200001206  |
-1.278 | 0.062 | N | 0.536 | 0.123 | None | gnomAD-2.1.1 | 3.28508E-04 | None | None | None | None | I | None | 1.65371E-04 | 8.5E-05 | None | 0 | 0 | None | 0 | None | 7.59575E-04 | 5.07186E-04 | 1.40528E-04 |
| I/T | rs200001206 |
-1.278 | 0.062 | N | 0.536 | 0.123 | None | gnomAD-3.1.2 | 3.4184E-04 | None | None | None | None | I | None | 2.17119E-04 | 0 | 0 | 0 | 0 | None | 5.65185E-04 | 0 | 5.4407E-04 | 0 | 0 |
| I/T | rs200001206 |
-1.278 | 0.062 | N | 0.536 | 0.123 | None | gnomAD-4.0.0 | 3.94811E-04 | None | None | None | None | I | None | 1.59936E-04 | 3.33489E-05 | None | 0 | 0 | None | 8.74836E-04 | 0 | 4.71344E-04 | 0 | 1.76107E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1165 | likely_benign | 0.1113 | benign | -1.204 | Destabilizing | 0.035 | N | 0.528 | neutral | None | None | None | None | I |
| I/C | 0.4818 | ambiguous | 0.4801 | ambiguous | -0.928 | Destabilizing | 0.824 | D | 0.605 | neutral | None | None | None | None | I |
| I/D | 0.4175 | ambiguous | 0.4068 | ambiguous | -0.169 | Destabilizing | 0.081 | N | 0.657 | neutral | None | None | None | None | I |
| I/E | 0.2717 | likely_benign | 0.2546 | benign | -0.193 | Destabilizing | 0.002 | N | 0.532 | neutral | None | None | None | None | I |
| I/F | 0.1255 | likely_benign | 0.1239 | benign | -0.815 | Destabilizing | 0.317 | N | 0.597 | neutral | N | 0.464473746 | None | None | I |
| I/G | 0.4205 | ambiguous | 0.4193 | ambiguous | -1.472 | Destabilizing | 0.262 | N | 0.654 | neutral | None | None | None | None | I |
| I/H | 0.3956 | ambiguous | 0.3718 | ambiguous | -0.532 | Destabilizing | 0.935 | D | 0.653 | neutral | None | None | None | None | I |
| I/K | 0.278 | likely_benign | 0.2425 | benign | -0.656 | Destabilizing | 0.149 | N | 0.659 | neutral | None | None | None | None | I |
| I/L | 0.0945 | likely_benign | 0.0987 | benign | -0.575 | Destabilizing | None | N | 0.209 | neutral | N | 0.398960829 | None | None | I |
| I/M | 0.0874 | likely_benign | 0.0879 | benign | -0.595 | Destabilizing | 0.317 | N | 0.615 | neutral | N | 0.452237954 | None | None | I |
| I/N | 0.2098 | likely_benign | 0.2049 | benign | -0.481 | Destabilizing | 0.484 | N | 0.665 | neutral | N | 0.465857825 | None | None | I |
| I/P | 0.2573 | likely_benign | 0.2706 | benign | -0.751 | Destabilizing | 0.791 | D | 0.67 | neutral | None | None | None | None | I |
| I/Q | 0.2884 | likely_benign | 0.2663 | benign | -0.649 | Destabilizing | 0.38 | N | 0.664 | neutral | None | None | None | None | I |
| I/R | 0.2326 | likely_benign | 0.2037 | benign | -0.098 | Destabilizing | 0.38 | N | 0.665 | neutral | None | None | None | None | I |
| I/S | 0.1601 | likely_benign | 0.1492 | benign | -1.14 | Destabilizing | 0.117 | N | 0.654 | neutral | N | 0.446445345 | None | None | I |
| I/T | 0.0715 | likely_benign | 0.0706 | benign | -1.04 | Destabilizing | 0.062 | N | 0.536 | neutral | N | 0.427859584 | None | None | I |
| I/V | 0.0582 | likely_benign | 0.0591 | benign | -0.751 | Destabilizing | None | N | 0.203 | neutral | N | 0.372910379 | None | None | I |
| I/W | 0.6253 | likely_pathogenic | 0.6246 | pathogenic | -0.788 | Destabilizing | 0.935 | D | 0.659 | neutral | None | None | None | None | I |
| I/Y | 0.4199 | ambiguous | 0.4013 | ambiguous | -0.575 | Destabilizing | 0.555 | D | 0.632 | 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.