Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29255 | 87988;87989;87990 | chr2:178557499;178557498;178557497 | chr2:179422226;179422225;179422224 |
| N2AB | 27614 | 83065;83066;83067 | chr2:178557499;178557498;178557497 | chr2:179422226;179422225;179422224 |
| N2A | 26687 | 80284;80285;80286 | chr2:178557499;178557498;178557497 | chr2:179422226;179422225;179422224 |
| N2B | 20190 | 60793;60794;60795 | chr2:178557499;178557498;178557497 | chr2:179422226;179422225;179422224 |
| Novex-1 | 20315 | 61168;61169;61170 | chr2:178557499;178557498;178557497 | chr2:179422226;179422225;179422224 |
| Novex-2 | 20382 | 61369;61370;61371 | chr2:178557499;178557498;178557497 | chr2:179422226;179422225;179422224 |
| 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/I | None | None | 0.956 | N | 0.551 | 0.324 | 0.427713192076 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | N | None | 2.98704E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.989 | N | 0.502 | 0.296 | 0.223847106136 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 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 | 0.113 | likely_benign | 0.1055 | benign | -1.03 | Destabilizing | 0.948 | D | 0.497 | neutral | N | 0.478752299 | None | None | N |
| T/C | 0.382 | ambiguous | 0.39 | ambiguous | -0.933 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/D | 0.6827 | likely_pathogenic | 0.6524 | pathogenic | -1.065 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/E | 0.5618 | ambiguous | 0.5413 | ambiguous | -0.967 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/F | 0.2748 | likely_benign | 0.2615 | benign | -0.863 | Destabilizing | 0.998 | D | 0.767 | deleterious | None | None | None | None | N |
| T/G | 0.4323 | ambiguous | 0.3912 | ambiguous | -1.367 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/H | 0.3924 | ambiguous | 0.3769 | ambiguous | -1.592 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/I | 0.1424 | likely_benign | 0.137 | benign | -0.188 | Destabilizing | 0.956 | D | 0.551 | neutral | N | 0.502648132 | None | None | N |
| T/K | 0.5186 | ambiguous | 0.531 | ambiguous | -0.79 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/L | 0.1027 | likely_benign | 0.1023 | benign | -0.188 | Destabilizing | 0.967 | D | 0.538 | neutral | None | None | None | None | N |
| T/M | 0.0806 | likely_benign | 0.0809 | benign | -0.097 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| T/N | 0.2231 | likely_benign | 0.1946 | benign | -1.109 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.517732227 | None | None | N |
| T/P | 0.7618 | likely_pathogenic | 0.8074 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.745 | deleterious | N | 0.498124001 | None | None | N |
| T/Q | 0.3984 | ambiguous | 0.3755 | ambiguous | -1.141 | Destabilizing | 0.999 | D | 0.768 | deleterious | None | None | None | None | N |
| T/R | 0.4146 | ambiguous | 0.4393 | ambiguous | -0.728 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| T/S | 0.1447 | likely_benign | 0.127 | benign | -1.349 | Destabilizing | 0.989 | D | 0.502 | neutral | N | 0.506205725 | None | None | N |
| T/V | 0.1113 | likely_benign | 0.1041 | benign | -0.436 | Destabilizing | 0.437 | N | 0.291 | neutral | None | None | None | None | N |
| T/W | 0.626 | likely_pathogenic | 0.6385 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/Y | 0.3594 | ambiguous | 0.347 | ambiguous | -0.565 | Destabilizing | 0.999 | D | 0.771 | 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.